24 - terry's nails

The distal 1–2-mm rim of the nail (which is still in contact with the nail bed) is pink, while the rest of the nail is white. This appears to be a non-specific sign, although in the patient shown it was associated with renal failure.

Terry's nails is a physical finding in which fingernails and/or toenails appear white with a characteristic "ground glass" appearance, with no lunula. The condition is thought to be due to a decrease in vascularity and an increase in connective tissue within the nail bed. It frequently occurs in the setting of hepatic failure, cirrhosis, diabetes mellitus, congestive heart failure, hyperthyroidism, and/or malnutrition. Eighty percent of patients with severe liver disease have Terry's nails.

In patients with Terry's nails, most of the nail plate turns white with the appearance of ground glass, and the lunula is obliterated. The condition may occur on only one finger, but more commonly all fingers are affected. This condition was described originally in relation to severe liver disease, usually cirrhosis, with 80 percent of these patients having Terry's nails. Subsequently, in another study, 25 percent of hospitalized patients with varied diseases were found to have Terry's nails. The condition is thought to be caused by a decrease in vascularity and an increase in connective tissue in the nail bed.

Hepatic failure, cirrhosis, diabetes mellitus, CHF, hyperthyroidism, malnutrition are the causes .

23 - red lunula

the first image shows normal lunula which is white and the second image shows the red lunula .

Q: red lunula is seen in all of the following conditions except ? a. AIDS b. RA c. SLE d. gonorrhea answer : d . gonorrhea .

Other conditions where we can see red lunula are :

1. AIDS 2. Rheumatoid arthritis 3. systemic lupus erythematosus 4.alopecia areata 5.cardiac failure 6. chronic systemic diseases

The lunula, or lunulae (pl.) (nail moon), is the crescent-shaped whitish area of the bed of a fingernail or toenail. The lunula is the visible part of the nail matrix (i.e. the root of the nail).

It appears by week 14 of gestation, and has a primary structural role in defining the free edge of the distal nail plate (the part of the nail that actually grows outward).

Appearance

It is located at the end of the nail that is closest to the skin of the finger but still lies under the nail. It is not actually white but only appears so when seen through the nail.

It is half-moon-shaped, and has unique histologic features.

The lunula is most noticeable on the thumb, and not everyone's lunula is visible.

Clinical significance

The lunula and the nail itself are good places to find warning signs of certain diseases such as liver disease, kidney disease, heart problems, and lung diseases.Any colour differences or unusual lines may indicate some type of disease or insufficiency. However, vertical lines on one's fingernails are normal as one ages.

Lunular anomalies include changes in form, structure or colour. Lunular dysmorphologic features (that is, anomalies in form) can be characterized by macrolunula, microlunula or anolunula, and nonconvex lunula. Lunular dyschromias (colour anomalies) can be confluent or spotted or can be characterized by longitudinal coloured bands that traverse the lunula. Alterations in the morphologic features or colour (or both) of the lunula can be an indication of either a cutaneous or a systemic disorder. A deep red lunula and pale nails is associated with congestive heart failure.

22 - gorlin's sign

Q: gorlin's sign is characteristic of ?

a. pseudoxanthoma elasticum
b. xeroderma pigmentosa
c. tuberous sclerosis
d. ehler danlos syndrome

answer : d . ehler's danlo's syndrome . touching of one's own nose with their own tongue is called gorlin's sign .

the first image shows the hypermobility of the joints which is characteristic of ehler danlos syndrome .

21 - pseudopelade ( foot prints in snow alopecia )

q:which is the variant of alopecia that shows "foot prints in snow" pattern ?

a. pseudopelade
b. trichotillomania
c. alopecia areata
d. all the above

answer : a . pseudopelade

Brocq used the term pseudopelade to describe a peculiar form of scarring alopecia resembling alopecia areata. (Pelade is the French term for alopecia areata.) This clinical entity is not a specific disease but a pattern of scarring alopecia, and the term pseudopelade of Brocq eventually should be abandoned. An additional source of confusion is the modern use of the term pseudopelade to describe a different form of scarring alopecia (ie, central, centrifugal, scarring alopecia [CCSA]).

Pseudopelade of Brocq is an end stage or clinical variant of various other forms of scarring alopecia and a diagnosis of exclusion. The same pattern of hair loss can be seen in burnt out (ie, no clinical or histologic evidence of inflammation) discoid lupus erythematosus (DLE), lichen planopilaris (LLP), and other forms of scarring alopecia. If a definitive diagnosis of DLE, LPP, or another condition can be made based on clinical, histologic, or immunofluorescent features, then the term pseudopelade of Brocq cannot be used. A primary form of traditional pseudopelade may exist, but this has yet to be established with certainty.

Pseudopelade of Brocq is a very uncommon pattern of alopecia.

Whites usually are affected more often.

Either sex can be affected.

Adults usually are affected more often, although the condition has been reported in children.

The typical patient is surprised to discover discrete asymptomatic areas of scalp hair loss . In many patients, the disease is slowly progressive; ie, new areas of alopecia develop over a period of months to years. However, the condition often worsens in spurts, with periods of activity followed by dormant periods. This is distinctly different from the slow but steady disease progression seen in several other forms of scarring alopecia. Disease progression in pseudopelade eventually ends spontaneously.

Lesions of pseudopelade are randomly distributed, irregularly shaped, and often clustered in patches on the scalp. Cases with exclusive crown or vertex involvement actually may represent examples of burnt-out, central, centrifugal, cicatricial (scarring) alopecia (CCCA). The individual lesion is hypopigmented (porcelain white is the classic description) and slightly depressed (atrophic). Lesions often are shaped irregularly, as opposed to the round or oval patches usually seen in alopecia areata and most cases of CCSA.

The classic description of "footprints in the snow" refers to dermal atrophy causing a slight depression below the surrounding normal scalp. In fact, many cases of pseudopelade do not demonstrate atrophy. Usually, only mild erythema and slight perifollicular scaling are present, and, often, no clinical evidence of inflammation is present. In fact, some authors would argue than any inflammation excludes traditional pseudopelade from the clinical differential diagnosis. Typical of many forms of scarring alopecia, a few isolated hairs may remain within an otherwise smooth, shiny, denuded patch. Include the nails and oral mucosa as well as the skin in physical examination to exclude evidence of other forms of scarring alopecia. Pseudopelade of Brocq is a diagnosis of exclusion.

Pseudopelade of Brocq is felt to be the end stage of several different forms of scarring alopecia, especially lichen planopilaris and chronic cutaneous lupus erythematosus. Therefore, the cause of pseudopelade of Brocq is linked to the etiology of the underlying skin disease.

Differentials:

Aplasia Cutis Congenita
Lupus Erythematosus, Discoid

Central, centrifugal, scarring alopecia
Follicular degeneration syndrome
Lichen planopilaris
Temporal triangular alopecia

Lab Studies

• No laboratory test has been found useful in establishing the diagnosis of pseudopelade of Brocq. If the history or physical examination suggests evidence of lupus erythematosus, antinuclear antibody testing would be appropriate.

Procedures

• Scalp biopsy is required for determining both diagnosis and prognosis.

·

• Ideally, the biopsy specimen is at least 4 mm in diameter and is sectioned transversely (horizontal to scalp surface).
• At the very least, discovering that follicles have been replaced by connective tissue will confirm the diagnosis of permanent scarring alopecia.

Histologic Findings

The histopathologic findings of traditional pseudopelade have yet to be clearly defined. The criteria established by Pinkus, based on his experience and on the writings of several other authors, are not correlated in any way with clinical features. Thus, pseudopelade as described by Pinkus is a histologic and not a clinical entity. In most cases of traditional pseudopelade, the active lesion is elusive, and the typical histologic findings are those of a burnt-out scarring alopecia. The histologic findings of pseudopelade of the crown more recently described apply to CCCA and not pseudopelade of Brocq. A prospective study of pseudopelade of Brocq with sound clinical correlation has yet to be performed. In most cases, if an active lesion is sampled, the histologic findings are those of the primary process, eg, lichen planopilaris.

Treatment:

When lesions of pseudopelade of Brocq are burnt out, treatment is neither necessary nor possible. Unfortunately, the condition can reactivate episodically and unpredictably. If active inflammation is present, consider an alternative diagnosis, and potent topical corticosteroids, such as fluocinonide or clobetasol, can be tried.

20 - lupus pernio (cutaneous sarcoidosis)

Lupus Pernio is one of the few cutaneous manifestations that are characteristic of sarcoidosis. Lesions are chronic, indurated papules or plaques that affect the mid-face, particularly the alar rim of the nose. Even a few small papules in this location may be associated with granulomatous infiltration of the nasal mucosa and upper respiratory tract, resulting in masses, ulcerations, or even life-threatening airway obstruction.

Lupus pernio is a chronic raised indurated (hardened) lesion of the skin, often purplish in color. It resembles frostbite as it is seen on ears, cheeks, lips, nose, hands, fingers, and forehead. It is most often associated with sarcoidosis. Microscopically, it resembles Lupus vulgaris. Biopsy shows granulomatous infiltration.

19 - LEOPARD syndrome

What is LEOPARD syndrome?

LEOPARD syndrome is a very rare inherited disorder that is characterised by skin, heart, ear, genital, head and facial abnormalities. The mnemonic LEOPARD describes these characteristic abnormalities associated with the disorder.

• L – lentigines (multiple brown-black spots on the skin)
• E – electrocardiographic (ECG) conduction defects
• O – ocular hypertelorism
• P – pulmonary stenosis
• A – abnormalities of genitals
• R – retarded growth resulting in short stature
• D – deafness or hearing loss due to inner ear malfunction

What are the clinical features of LEOPARD syndrome?

The clinical features of LEOPARD syndrome vary considerably between patients, with most only manifesting 3-5 abnormalities. Lentigines are the most common feature of the syndrome and occur in more than 90% of patients. However, they do not have to be present to diagnose LEOPARD syndrome.

The clinical features of lentigines are:

• Small, dark brown, round or oval, irregularly shaped flat spots 2-5 mm in diameter. However, some lentigines may grow to 1-1.5 cm in size.
• Often found on the face, neck, and upper part of the trunk but also on the palms, soles, and the sclerae (whites) of the eyes.

Careful examination of the skin usually shows up other skin abnormalities including:

• Freckling around the armpit region
• Café au lait spots (coffee-coloured flat birthmarks)
• Localised hypopigmentation (lightening of skin colour)
• Onychodystrophy (malformation of the nails)
• Interdigital webs (webbing between the fingers)
• Hyperelastic skin (stretchy skin)

Non-cutaneous features include:

• Hearing loss in about 25% of patients
• Short stature in about 1/3 of patients
• Mild degree of mental retardation in about 30% of patients
• Craniofacial abnormalities (e.g. low set ears, abnormal shaped skull, dental abnormalities)
• Abnormalities of the genitals in about 26% of patients, mainly in men
• Heart abnormalities, often without symptoms

What causes LEOPARD syndrome?

LEOPARD syndrome is nearly always due to mutations in the PTPN11 gene (protein-tyrosine phosphatase, nonreceptor type 11).

It is inherited in an autosomal dominant manner, which means that if one parent is affected there is a 50% chance that each child will be affected. About 70% of cases are inherited. The remainder are sporadic cases occurring from new mutations.

The signs and symptoms experienced by people with LEOPARD syndrome vary greatly. Some patients may have a partial form of the syndrome and suffer mild symptoms while others with the full syndrome are more severely affected.

How is LEOPARD syndrome diagnosed?

A proposed minimum criteria for the diagnosis of LEOPARD syndrome is:

• The presence of multiple lentigines, plus
• Features of at least 2 other categories
• Other skin abnormalities
• Cardiac abnormalities
• Genitourinary abnormalities
• Endocrine abnormalities
• Neurologic defects
• Craniofacial abnormalities
• Shortness of stature
• Skeletal abnormalities

If lentigines are absent, a diagnosis of LEOPARD syndrome may be made if the patient has at least 3 of the categories listed above and has an immediate relative also with the condition.

What treatments are available?

A team of specialist doctors including a cardiologist, endocrinologist, orthopaedist and dermatologist should manage LEOPARD syndrome.

If necessary, isolated lentigines can be removed through the use of chemical peels, cryotherapy, laser treatments or surgical excision. For some patients, treatment with topical retinoids and hydroquinone cream may be helpful.

18 - dermatology mcqs - 21 to 25

21q: epiloia is the synonym for which disease ?

1. ataxia telangiectasia
2. tinea capitis
3. tuberous sclerosis
4. sarcoidosis

answer : c .

22q: discoloration of hair in persons swimming regularly due to absorption of copper by hair is called ?

1. blue hair
2. green hair
3. red hair
4. yellow hair

answer : b . green hair .

23q: fish odour syndrome refers to ?

1. apocrine secretions
2. saliva
3. biliary secretions
4. ecrine secretions

answer : a . apocrine secretions .

24q: tiny café-au-lait spots in the axillae in neurofibromatosis patients is called as ?

1. bulton holing sign
2. osler’s sign
3. darrier’s sign
4. crowe’s sign

answer : d . crowe’s sign . remember darrier’s sign is different from darrier’s disease and darrier’s sign is not seen in darrier’s disease.

25q: enamel paint appearance of skin is seen in ?

1. kwashiorkor
2. chloasma
3. pompholynx
4. riehl’s melanosis

answer : a . this is also called flaky paint appearance .

17 - chinese letter pattern hyperpigmentation

q: chinese letter pattern of hyperpigmentation is seen in ?

a. minocycline toxicity
b. bleomycin side effect
c. incontinentia pigmentosa
d. acanthosis nigricans

answer : c . this is seen in the vesicular stage of the disease .this is otherwise called bloch sulzberger or bloch siemens syndrome .

Incontinentia pigmenti is also referred to as ‘Bloch-Sulzberger syndrome’, ‘Bloch-Siemens syndrome’, ‘melanoblastosis cutis linearis’, and ‘pigmented dermatosis-Siemens-Bloch type’.

What is incontinentia pigmenti?

Incontinentia pigmenti is a rare genetic condition characterised by skin, eye, teeth and central nervous system (CNS) abnormalities. The characteristic skin lesions of incontinentia pigmenti are present at birth or develop in the first few weeks of life in approximately 90% of patients.

What causes incontinentia pigmenti?

Incontinentia pigmenti is a dominant X-linked disease. This means that the abnormal incontinentia pigmenti gene is located on one of the X chromosomes, which determine the sex of a child (XY=male; XX=female). Dominant X-linked disease means that a female with only one copy of the abnormal gene will show the disease, even though they have a normal gene on their other X-chromosome. Males who inherit the abnormal gene do not survive, resulting in miscarriage or stillbirth (X-linked dominant, male lethal syndrome). Rarely incontinentia pigmenti is reported in males with Klinefelter syndrome (XXY syndrome) or as a result of spontaneous mutations.

The incontinentia pigmenti gene is localised on chromosome Xq28. This gene normally codes for the nuclear factor-KB essential modulator protein (the NEMO or NF-kappaB gene).

What are the cutaneous features of incontinentia pigmenti?

Progressive skin rashes are the main clinical feature of the disease. There are four recognised clinical stages but their sequence is irregular, their duration variable and they may overlap.

Stage 1: Vesicular	Most often affects extremities and scalp but can arise on any part of body Red, blister-like lesions Often appear grouped in lines along the arms and legs (following so-called lines of Blaschko) Present at birth or within the first 2 weeks of life in 90% of patients May last from a few weeks to a few months and recur throughout the first few months of life chinese letter pattern of hyperpigmentation
Stage 2: Verrucous	Wart-like or pustular lesions Thick crusts or scabs form over healing blisters Lesions may be darker in skin colour (hyperpigmentation) May be present at birth but in 70-80% of patients evolves after the first stage May last for months, but rarely longer than a year
Stage 3: Hyperpigmented	Skin is darkened in a swirled pattern Pigmentation ranges from blue-grey or slate to brown Present at birth in 5-10% of patients but usually appears within the first few months of life in 90-98% of patients Darkened patches may or may not be related to areas affected in stage 1 and 2 Heavy pigmentation tends to fade slowly with increasing age
Stage 4: Atrophic/ hypopigmented	Scar-like lesions develop during adolescence and persist into adulthood Occur in 30-75% of patients Appear as pale, hairless patches or streaks

Other organ involvement

Other organs may be affected in various ways in patients with incontinentia pigmenti. These manifestations may not be seen or recognised until infancy or early childhood.

Teeth	Abnormalities in more than 80% of patients Delay in eruption of teeth (both baby and adult teeth affected) Some teeth may be missing altogether Teeth may be unusually shaped, typically pegged or cone-shaped
Nails	May be involved in up to 40% of patients Nails may be ridged, pitted, thickened or completely disfigured Usually all or multiple finger and toe nails are affected
Hair	Minor hair abnormalities in up to 50% of patients Loss or lack of hair on the crown of the head Absence of eyebrows and eyelashes Hair may be coarse, wiry and lack lustre
Eyes	Eye defects occur in 20-35% of patients Typically occur before age 5 Disease causes an abnormality in the growth of blood vessels in the inside of the eye resulting in scarring Can cause blindness but may be treated if recognised early enough
Central Nervous System	Neurological complications may occur in up to 30% of patients Most common complication is seizures which usually develop within the first few weeks of life Other manifestations include slow motor development, mental retardation, spastic paralysis, cerebral atrophy

What is the treatment for incontinentia pigmenti?

There is no specific treatment for incontinentia pigmenti. The main goal is to prevent secondary bacterial infection of skin lesions and to monitor closely the development of related problems. This should include regular dental care and close monitoring by an ophthalmologist for the first few years of life.

16 - incontinentia pigmentosa

Incontinentia Pigmenti (IP) is a genetic disorder that affects the skin, hair, teeth, and nails. It is also known as Bloch Sulzberger syndrome, Bloch Siemens syndrome, melanoblastosis cutis and naevus pigmentosus systematicus.

This disorder was first reported by Bruno Bloch, a German dermatologist in 1926 and Marion Sulzberger, an American dermatologist in 1928.

The skin lesions evolve through characteristic stages:

1. blistering (from birth to about four months of age),
2. a wart-like rash (for several months),
3. swirling macular hyperpigmentation (from about six months of age into adulthood), followed by
4. linear hypopigmentation.

chinese letter pattern of hyperpigmentation seen in incontinentia pigmentosa

Alopecia, hypodontia, abnormal tooth shape, and dystrophic nails are observed. Some patients have retinal vascular abnormalities predisposing to retinal detachment in early childhood. Cognitive delays/mental retardation are occasionally seen.

The diagnosis of IP is established by clinical findings and occasionally by corroborative skin biopsy. Molecular genetic testing of the IKBKG gene (chromosomal locus Xq28) reveals disease-causing mutations in about 80% of probands. Such testing is available clinically. In addition, females with IP have skewed X-chromosome inactivation; testing for this can be used to support the diagnosis.

IP is inherited in an X-linked dominant manner. IP is lethal in most, but not all, males. A female with IP may have inherited the IKBKG mutation from either parent or have a new gene mutation. Parents may either be clinically affected or have germline mosaicism. Affected women have a 50% risk of transmitting the mutant IKBKG allele at conception; however, most affected male conceptuses miscarry. Thus, the expected ratio for liveborn children is 33% unaffected females, 33% affected females, and 33% unaffected males. Genetic counseling, prenatal testing, and preimplantation genetic diagnosis is available.

In females, the cells expressing the mutated IKBKG gene due to lyonization selectively die around the time of birth so the X-inactivation is extremely skewed.

15 - tuberous sclerosis ( epiloia )

DEFINITION:

A neurocutaneous syndrome characterized by cutaneous and neurologic manifestations (mental retardation and seizures), and tumors.

EPIDEMIOLOGY:

• incidence: 1/30,000
• age of onset:
• 1st decade
• risk factors:
• familial - autosomal dominant with variable penetrance
• chrom.#: 9q33-34 (Type 1)
• ?11q23 (Type 2)
• ?12q23.3 (Type 3)
• 16p13 (Type 4)
• if 2 or more siblings with Tuberous Sclerosis (TS) then one parent always has at least one skin manifestation of TS
• sporadic rate varies from 58-77%
• if both parents are normal the TS in a child is probably a new mutation

HISTORY:

1880-1900 - Bourneville and Brissaud

• first pathologic description of TS
• first to call the disease tuberous sclerosis
• first to relate cerebral sclerosis to the renal tumors

1908 - Vogt

• emphasized association of adenoma sebaceum & cerebral sclerosis
• emphasized cardiac and renal tumors are constituents of TS
• triad: mental retardation (MR), seizures, adenoma sebaceum

PATHOLOGY:

1. Tubers

• basic cause is unknown but considered a disorder of early embryogenesis
• greater the # of tubers the greater the neurologic impairment
• found anywhere within the cerebral hemispheres:
• typically present in the subependymal region (located in the walls of the lateral ventricles and on the surface of the basal ganglia) and may extend into the ventricles
• in the region of the foramen of Monro where they may cause obstruction -> hydrocephalus
• also cortical gyri, sulcus terminalis

2. Sclerosis

• areas of:
• decreased numbers of neurons
• areas of increased numbers of oddly-shaped, multinucleated "monster" giant neurons
• proliferation (overgrowth) of fibrillary astrocytes which occasionally differentiate into malignant astrocytomas
• demyelination
• calcium deposition in gliotic areas
• blood vessels with hyaline degeneration of their walls

CLINICAL FEATURES:

• clinical presentation is extremely variable depending on the age of the patient, which organs are involved, and the severity of involvement
• clinical variability even within the same family

1. Cutaneous Manifestations

1. Adenoma Sebaceum (80%)

• rarely present at birth
• usually presents between 4-6 years of age:
• are present in 12% at 1 year
• are present in 33% at 2 years
• are present in 40% at 3 years
• are angiofibromas:
• usually pink or red papules appearing in patches or in a butterfly-shaped distribution on or about the nose, cheeks, and chin
• with time may enlarge, coalesce, and assume a fleshy appearance

2. Ash-leaf Spots (90%)

• hypopigmented oval or leaf-shaped spots
• vary in size from mm -> cm
• vary in number from several to 75 or more
• found on the trunk and limbs in a linear orientation
• apparent at birth and seen prior to 2 years in 50% of patients
• visualized using a Wood's light (melanin absorbs wavelengths at 360 nm)
• represent depigmented macules inwhich the melanocytes are normal but the melanosomes are reduced in number and contain less melanin

3. Shagreen Patches (35%)

• isolated "leathery" raised and thickened plaques
• have an orange-peel consistency
• may be grayish-green or light brown in colour
• found over the lumbosacral or gluteal region
• develop in late infancy or early childhood but may also be present at birth
• may be preceded by patches of grey or white hair (these hairy patches may be the first manifestation of TS)

4. Others

• cafe-au-lait spots (7-16%)
• fibromas:
• flattened and can appear on the trunk, gingivae, periungual region, and along the hairline or eyebrows
• angiomas

2. Neurologic Manifestations

1. Seizures (90%)

• most common symptom of TS
• initally present as infantile spasms:
• 25-50% of patients with infantile spasms later develop signs of TS
• can appear as early as 1 week of age
• later develop other types of generalized seizures:
• tonic, clonic, myoclonic, akinetic, Lennox-Gastaut Syndrome
• epileptogenic focus may occur independently of tubers

2. Mental Retardation (60-70%)

• highly variable but when present is irreversible
• may be initally normal but then deteriorate intellectually during the latter part of the 1st decade (secondary to seizure or increased intracranial pressure)
• earlier the onset of seizures the greater the likelihood of mental retardation (if seizures begin <1>
• all who have mental retardation (MR) have had seizures
• 33% of TS have normal intelligence

3. Others

• hydrocephalus:
• if tubers obstruct the foramina of Monro or the
• Sylvian aqueduct
• developmental delay
• may develop autistic features

3. Tumors

1. Retinal (50-80%)

1. Mulberry Tumor

• a nodular astrocytoma of the retina on or about the optic nerve head
• refractile, yellowish, multinodular cystic lesions

2. Hamartomas

• round or oval grey-yellow glial flat patches found centrally or peripherally
• complications do not include papilledema or impaired vision

2. Renal (50-80%)

1. Angiomyolipomas

• multiple yellow-white nodules or cystic tumors embedded within the parenchyma
• usually benign but may cause hematuria, pain, and renal failure

3. Heart (50%)

1. Cardiac Rhabdomyomas

• solitary or multiple; infiltrative and/or diffuse
• solitary lesions usually found at the apex of the left ventricle
• may cause congestive heart failure or arrhythmias but tend to slowly resolve spontaneously
• may cause death before skin manifestations evident

4. Cutaneous (20%)

1. Koenen's Tumors

• subungual or periungual fibromas
• usually first appear in adolescence
• toes > fingers

5. Intracranial (15%)

1. Astrocytomas

• fibrillary astrocytomas may differentiate into giant cell astrocytomas
• occur around the walls of the lateral ventricle or the anterior portion of the 3rd ventricle
• may present as:
• elevated intracranial pressure (papilledema, headache, nausea, vomiting)
• diminished vision
• lateralizing signs (hemiparesis)

6. Oral

• oral fibromas or papillomas
• usually found on the anterior aspect of the gingiva

4. Other Manifestations

1. Respiratory

• lesions in lungs are either cystic or fibrous
• angiomyolipomas may produce these generalized multicystic or fibrous pulmonary changes
• may present with SOBE, and/or spontaneous pneumothorax
• females more affected than males

2. Musculoskeletal

• cystic changes and periosteal thickening of bones in hands and feet

INVESTIGATIONS:

1. Imaging Studies

1. CT

· 1. Intracranial Calcifications (60%)

• most reliable finding in TS is calcified subependymal tubers
• also occur in the region of the foramina of Monro and periventricular regions
• multiple scattered calcium deposits may vary in size up to several cm
• occur as early as 5 months and become more prominent with time (typically around 3-4 years of age)

· 2. Others

• only 5% of patients with the clinical features of TS have normal CT's
• may also identify cerebral atrophy, subependymal tumors, ventriculomegaly, and areas of diffuse demyelination

2. MRI

• preferable for the visualization of cortical tubers, areas of heteropias, and hamartomas
• tubers which project into the lateral and 3rd ventricles may appear as "candle drippings"
• important to identify heteropias as these may act as seizure foci

3. Skeletal X-Rays

• cystic rarefaction of phalanges and metacarpals (67%) appear around puberty
• sclerotic areas of long bones
• areas of variable skull bone density with thickened calvaria

4. Chest X-Rays

• fine reticular infiltrates and/or multicystic changes

2. EEG

1. Infantile Spasms

• hypsarrhythmias, can persist up to 8 years of age

2. Generalized Seizures

• generalized slow wave-and-spike activity or independent multifocal spike discharges

3. Cerebral Spinal Fluid

• elevated protein with elevated intracranial pressure (ICP)

MANAGEMENT:

1. Supportive

• a multidisciplinary approach involving:
• Paediatrics, Neurology, Ophthalmology, Nephrology, Cardiology, Dermatology, Neurosurgery, Orthopedics, PT, OT, Respirology
• ensure regular follow-up for tumor surveillence
• supplemental education

2. Cutaneous Manifestations

• surgical resection if lesions are continually irritated or subjected to trauma

3. Neurologic Manifestations

1. Infantile Spasms

• hormonal therapy: ACTH, prednisone
• anticonvulsants: clonazepam, VPA, nitrazepam, clobazam
• ? pertussis immunization -> triggers infantile spasm
• recommend not giving pertussis immunization to infants with TS

2. Generalized Seizures

• anticonvulsant therapy and may be difficult to control

3. Developmental delay

• physiotherapy, early intervention

4. Tumors

1. Surgical Resection

• of intracranial tumors if complications:
• elevated ICP -> hydrocephalus
• malignant transformation
• of other tumors if complications:
• cardiac -> congestive heart failure or arrhythmias
• renal -> renal failure

5. Others

1. Genetic Couselling

• 25% of parents without personal or family history of TS may be shown by careful history, physical (Wood's light, fundoscopic exam), & investigations (CT, renal ultrasound) to be affected
• incompletely affected parents (those with isolated findings such as adenoma sebaceum, retinal hamartomas, viseral tumors) can have children with complete TS

14 - koenen tumors

Q: koenen tumors are seen in greater than 50 % cases of ?

1. sturge weber syndrome
2. ataxia telengiectasia
3. tuberous sclerosis
4. neurofibromatosis

answer : c . tuberous sclerosis .

--- the first question that comes to mind is

Q: what are these koenen tumors?

Answer : these are asymptomatic tumors that occur in adolescence in patients with tuberous sclerosis. They are often multiple and can cause depressions in the nail plate. Surgery is the treatment for bothersome lesions. Acquired digital fibrokeratomas

( subungual or periungual fibromas) are small growths that appear around the nail which are fleshy ,asymptomatic and may have a keratotic distal tip .

Usually appear in adolescence and are located more in toes than fingers .

13 - wood lamp examination of skin mcqs

Q: woodlamp examination will help in the diagnosis of all the diseases except ?

1. porphyria
2. rosacea
3. pityriasis versicolor ( tinea versicolor )
4. erythrasma

answer : b. rosacea .

--- to answer this question you need to know

Q: what is woodlamp examination ?

Answer : Wood's lamp was invented in 1903 by a Baltimore physicist, Robert W. Wood. It was first used in dermatology practice for the detection of fungal infection of hair by Margarot and Deveze in 1925.Wood's lamps are small, durable, inexpensive, safe and very easy to use. Although mainly used in the diagnosis of some infective and pigmentary dermatoses, they have recently been used as a diagnostic tool for certain skin cancers.

Q: how does the woodlamp help in diagnosing the skin disorders?

Answer : depending on the disease the skin is affected with this woodlamp shows different colours which helps us in diagnosing that particular condition .

Erythrasma ---- gives a ---- coral red colour

Pseudomonas ---- gives a ---- greenish colour

Porphyria cutanea tarda ---- gives a ---- pinkish red colour

Tuberous sclerosis ---- gives a ---- blue white colour and visibility of ash leaf macule ( verification needed )

Tinea capitis ---- gives a ---- light cream colour

Ptyriasis versicolor ---- gives a ---- golden yellow colour

Leprosy ---- gives a ---- blue white colour ( verification needed )

· Golden Yellow (Tinea Versicolor)

· Pale Green (Trichophyton Schoenleini)

· Bright Yellowgreen (Microsporum Audouini or M. Canis)

· Aquagreen To Blue (Pseudomonas Aeruginosa)

· Pink To Pinkorange (Porphyria Cutanea Tarda)

· Ash-Leaf-Shaped Spot (Tuberous Sclerosis)

· Bluewhite (Leprosy)

· Pale White (Hypopigmentation)

· Purplebrown (Hyperpigmentation)

· Bright White, Or Bluewhite (Depigmentation, Vitiligo)

· Bright White (Albinism)

12 - woodlamp examination of skin

Wood's lamp was invented in 1903 by a Baltimore physicist, Robert W. Wood.[1] It was first used in dermatology practice for the detection of fungal infection of hair by Margarot and Deveze in 1925.[2] Wood's lamps are small, durable, inexpensive, safe and very easy to use. Although mainly used in the diagnosis of some infective and pigmentary dermatoses, they have recently been used as a diagnostic tool for certain skin cancers.

Physics

Wood's lamp emits long-wave UV radiation (UVR), also called black light, generated by a high pressure mercury arc fitted with a compound filter made of barium silicate with 9% nickel oxide, the “Wood's filter.” This filter is opaque to all light rays except a band between 320 and 400 nm with a peak at 365 nm. Fluorescence of tissues occurs when Wood's (UV) light is absorbed and radiation of a longer wavelength, usually visible light, is emitted. The output of Wood's lamp is generally low (<> The fluorescence of normal skin is very faint or absent and is mainly due to constituents of elastin, aromatic amino acids and precursors or products of melanin.[3]

Technique of Wood's lamp examination

The use of a Wood's lamp does not require great skill. However, some practical points should be kept in mind to avoid misinterpretation of results.[4],[5],[6]
- The lamp should ideally be allowed to warm up for about 1 minute.
- The examination room should be perfectly dark, preferably a windowless room or a room with black occlusive shades.
- The examiner should get dark adapted in order to see the contrast clearly.
- The light source should be 4 to 5 inches from the lesion.
- Washing the area before subjecting it for Wood's lamp examination should be avoided since it may yield false negative results due to dilution of the pigment.
- Topical medicaments, lint and soap residues should be wiped off from the site to be examined since these may fluoresce under Wood's light. Common sources of error are bluish or purplish fluorescence produced by ointments containing petrolatum, green fluorescence by salicylic acid containing medicaments, and light reflected from examiners white coat producing light blue fluorescence.

Applications of Wood's lamp

Superficial fungal infections

Tinea capitis
The first use of Wood's lamp was for the detection of tinea capitis based on the fact that some dermatophyte species produce characteristic fluorescence under UV light. The chemical responsible for the fluorescence is pteridine.[7] Wood's lamp is helpful in the diagnosis and treatment of an individual patient as well as for mass screening and control of epidemics in schools.[8] It can also help to assess the length and response to treatment; the end point being emergence of non-fluorescent hair. Dermatophytes that cause fluorescence are generally members of the Microsporum genus. However, the absence of fluorescence does not necessarily rule out tinea capitis as most Trichophyton species, with the exception of T. schoenleinii, are non-fluorescent.[7] The fluorescence pattern of dermatophytes is shown in [Table - 1].

Pityriasis versicolor
Malassezia furfur emits a yellowish-white or copper-orange fluorescence. Wood's lamp can detect sub-clinical infection and the extent of infection. It can also help distinguish Pityrosporum folliculitis from other causes of folliculitis.[9]

Bacterial Infections

Pseudomonas infections
Pathogenic Pseudomonas species produce a pigment 'pyoverdin' or 'fluorescein' which shows green fluorescence under Wood's light. Fluorescence is detected when the bacterial count exceeds 105/cm2, the number required for infections.[10] Wood's lamp can detect early Pseudomonas infection of burn wounds and widespread cutaneous erosions in pemphigus, toxic epidermal necrolysis and Stevens-Johnson syndrome. The diagnosis of ecthyma gangrenosum can also be made earlier than confirmatory blood culture reports by injecting saline into the wound and examining the solution thus withdrawn under Wood's light.[11]

Erythrasma
Corynebacterium minutissimum shows coral red fluorescence under Wood's light due to water soluble coproporphyrin III produced by the organisms. Hence, washing the area will remove the fluorescence. Subclinical colonization by these organisms can also be detected using Wood's lamp, in the toe webs, scalp or the trunk.[8],[9]

Acne vulgaris

Coproporphyrin is the major porphyrin produced by P. acnes that imparts orange-red fluorescence to the comedones inhabited by P. acnes. Facial follicular fluorescence correlates well with the P. acnes population.[12]

Coral red fluorescence is frequently seen in normal individuals over facial follicular openings and the papillae of the tongue. Similar fluorescence due to proto- or coproporphyrins may be occasionally seen in squamous cell carcinomas and even non-malignant leg ulcers. Some malignant neoplasms of the gastrointestinal or respiratory tracts may show similar fluorescence.

Pigmentary disorders

Hypopigmentary and depigmentary dermatoses
a) Hypopigmentation in fair skinned persons can be very difficult to discern. In hypopigmented or depigmented lesions there is less or no epidermal melanin. Consequently, there is a window through which the light induced autofluorescence of dermal collagen can be seen. Due to the abrupt cut-off in the visible emission from lesional skin, the margins of hypopigmented or depigmented spots appear sharper under Wood's light. The lesions appear bright blue-white due to autofluorescence.[6]

Wood's lamp is therefore helpful in making a diagnosis of vitiligo[13] and particularly differentiating it from pityriasis alba, leprosy and post-inflammatory hypopigmentation or for identifying evolving lesion in a fair skinned person. It is similarly useful in demonstrating evolving lesions of chemical leukoderma[13], leukoderma associated with melanoma,[14] the ash leaf macules of tuberous sclerosis,[15] and hypomelanosis,[16] especially in the fair skinned. Wood's lamp can also help to differentiate nevus depigmentosus from nevus anemicus; the latter does not
show accentuation with Wood's light. Follicular repigmentation following oral photochemotherapy can also be demonstrated earliest by the use of Wood's light.

Hyperpigmentary dermatoses
Wood's lamp can be used to determine the depth of melanin in the skin. The variations in epidermal pigmentation become more apparent under Wood's light. For dermal pigmentation, this contrast is less pronounced. However, this applies only for the fair skin types and not for type V or VI skin.[17]

Based on Wood's light findings, Sanchez et al[18] classified melasma into four subtypes: epidermal, dermal, mixed and Wood's light inapparent. Wood's light may also serve as a prognostic guide in the treatment of melasma, as the epidermal type of melasma is more likely to respond favorably to depigmenting agents than other types.

Wood's lamp can also be a very useful guide in chemical peeling. Addition of salicylic acid (in a 1:5 ratio) or fluorescein sodium (1:15 ratio) to peeling solutions and observing for green and yellow-orange fluorescence respectively under Wood's light helps to avoid overcoating of the peeling solution and ensures the even treatment of all areas.[19]

Porphyria

Detection of excess porphyrins in the teeth, urine, stool samples, red blood cells and blister fluid in different forms of porphyrias can easily be done with the help of Wood's lamp. Addition of dilute hydrochloric acid to the sample being examined intensifies the fluorescence by converting porphyrinogens to porphyrins.[20] The types of fluorescence observed in the principal porphyrias are shown in [Table - 2].

Photodynamic diagnosis

A relatively newer, non-invasive and simple technique is being developed for the diagnosis of premalignant and malignant conditions. It involves the application of 20% ALA ointment to the tumor and leaving it on for 4-6 hours under occlusion, allowing protoporphyrinogen IX to accumulate, after which the area is illuminated with Wood's light. This photodynamic diagnosis has proved very useful in the diagnosis of basal cell epithelioma, squamous cell epithelioma, Bowen's disease, solar keratosis and extramammary Paget's disease.[21]

Miscellaneous uses

The other lesser recognized but useful applications of Wood's lamp include:
- Demonstration of a burrow in scabies by applying a fluorescent substance like tetracycline paste or fluorescein dye.[22]
- Detection of systemically administered drugs such as tetracycline or mepacrine in the skin and nail lunulae.[23],[24] Topical tetracycline hydrochloride demonstrates coral red fluorescence which changes to yellow after a few minutes under Wood's lamp examination.
- Assessing the protective value of sunscreen creams and barrier creams in industry.[25]
- Wood's lamp may be useful for the detection of allergens on the skin in cases of cosmetic allergies. It has been occasionally used for photo-patch testing although it is not an ideal source for this test. Use of fluorescent markers during patch tests or other tests that require identification of the skin site after 24 or 48 hours is aided by a Wood's lamp. Wood's lamp is also reported to be useful in assessing the adequacy of application of protective creams in industry to prevent contact dermatitis.[25],[26]
- Calculation of the circulation time by injecting intravenous flourescein.[22]
- Studying cutaneous penetration and epidermal turnover through fluorescent tags.[22]
- Detection of semen on the skin in cases of sexual abuse.[27]
- Wood's light has a sterilizing effect on Staphylococcus aureus and mycobacteria and may be used to sterilize culture media.[28]
- Wood's lamp has been used occasionally as a powerful suggestive treatment for warts in pediatric patients with some success.[29]
- UV lamp is also widely used by financial institutions to check fake paper currency or verify signatures and in the industry to detect cracks in ceramics or metals.[6]

Wood's lamp is a simple, non-invasive device chiefly used for the diagnosis of infective and pigmentary dermatoses by dermatologists. However, newer uses, like its application in photodynamic diagnosis of skin cancers, are being continually explored.