27- Congenital/Genodermatoses Flashcards by Sharmaine Lozano

X linked dominant
Whorled pigmentation on trunk
Preceded by vesicular and verrucous changes
Appears in girls usually 4-6 weeks old
Usually resolve by 1 year of age

Incontinentia pigmenti

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Histo of incontinentia pigmenti
Vesicular stage:
Verrucous stage:
Hyperpigmented stage:

Vesicular- spongiosis with eosinophils
Verrucous- dyskeratotic cells within epidermis
Hyperpigmented- dermal melanophages (pigment incontinence)

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Most frequently involved extra cutaneous manifestations in incontinentia pigmenti

Teeth-90%
Bones-40%
CNS- 33%
Eyes-35%

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This X linked dominant disorder is an important cause of neonatal seizures and encephalopathy

Incontinentia pigmenti

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A variant of incontinentia pigmenti that manifests as hypopigmentation
Autosomal dominant, no vesicular/verrucous stages
Higher CNS abnormalities
Polycystic kidney disease

Incontinentia pigmenti achromians

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Treatment for incontinentia pigmenti

None
Usually fades by 2 years old
May have minimal residual pigmentation in adulthood

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Differs from incontinentia pigmenti by being autosomal dominant and reticular pattern of pigmentation
Abnormal dermatoglyphics-absent ridges on fingerprint
Mutation in keratin 14

Naegeli- Franceschetti- Jadassohn syndrome

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Ichthyosis of skin similar to colloidon baby
Hyperkeratotic “whirl and swirl” pattern on erythematous skin
Waxy, shiny skin with crushed eggshell configuration

Ichthyosis clears within first year

Chondrodysplasia punctata

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Associated nail changes with chondrodysplasia punctata

Platonychia

Onychoschizia

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Most common sex chromosome disorder

Klinefelter syndrome

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Cause of hypercoagulable state in Klinefelter syndrome

Increased plasminogen activator inhibitor 1

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Patients with Klinefelter’s are at increased risk of developing

SLE

Cancers( male breast, hematogenous, sarcoma)

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Frequent heart condition in Turner syndrome

Coarctation of the aorta

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Conditions that may mimic Turner syndrome

Escobar syndrome (multiple pterygium syndrome)- autosomal recessive

Noonan syndrome- autosomal dominant

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Manifestations that suggest a RASopathy

Congenital heart defects
Severe feeding difficulty
Developmental motor delay
Hair and skin anomalies

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Patients with RASopathies are at an increased risk for developing

SLE

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Classic triad of tuberous sclerosis only present in minority of patients

Adenoma sebaceum
Mental deficiency
Epilepsy

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Sebaceous Angiofibromas in cheeks, nose and forehead
Shagreen plaque
Koenen tumors (periungual angiofibroma)
Ash leaf macules

Tuberous sclerosis

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Diagnosis for tuberous sclerosis

Woods light- ash leaf macules
Xray/CT UTZ MRI- calcified intracranial nodules
Fundoscopy- retinal tumors
Renal UTZ- renal angiomyolipoma
Hand and foot xray- bone cysts and sclerosis

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Two gene mutations in tuberous sclerosis

TSC1- hamartin

TSC2- tuberin

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Treatment of tuberous sclerosis

MTOR inhibitors (everolimus)- angiofibromas

Adenoma sebaceum- laser/dermabrasion

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Autosomal dominant 
Neurofibromas 
Cafe au lait spots 
Giant pigmented hairy nevi
Sacral hypertrichosis 
Cutis verticis gyrata
Lisch nodules

NF1

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Autosomal dominant
Bilateral acoustic neuromas
Absence of cutaneous lesions

NF2

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NF2 patients are at greater risk of developing these tumors

Optic gliomas
Neurilemmomas
Meningiomas

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Soft tumors that can be pushed down by light pressure (buttonholing) Spindle cell proliferations with amphophilic myxoid stroma and mast cells Proliferation of all supporting elements of nerve fibers

Neurofibromas

Virtually pathognomonic of NF1

Subcutaneous plexiform neurofibromas

Finding of how many cafe au lait macules measuring 1.5cm is diagnostic of NF1?

6 or more

Axillary freckling in NF1 is called _______ sign

Crowe’s sign

Patients with NF1 are four times more likely to develop malignancy than the general population True or false

True

Children with NF1 are 200-500 times more likely to develop this cancer

Malignant myeloid disorders

NF1 and NF2 protein involved

Neurofibromin and merlin

Not listed in the criteria but the presence of these findings are strongly associated with NF1

Nevus anemicus Xanthogranuloma Glomus tumor

Best imaging procedure for px with evidence of hearing impairments or abnormal evoked responses in NF

MRI

May be confused with neurofibromatosis PTEN mutation Greater number of cutaneous lesions also have most extra cutaneous abnormalities Disproportionate overgroth, cerebriform plantar hyperplasia hyperostosis vascular malformations

Proteus syndrome

Autosomal dominant Retinal angioma, cerebellar medullary angioblastic tumors, pancreatic cysts, renal tumors and cysts Usually no skin manifestations Mutation of tumor suppressor gene at short arm of chromosome 3

Von Hippel Lindau Syndrome

Cerebellar ataxia Oculocutaneous telangiectasia Sinopulmonary infections Other features: choreic and atheroid movement, pseudopalsy of eyes

Ataxia telangiectasia

Early death from ___________ occurs in >50% of ataxia telangiectasia patients

Bronchiectasis

Ataxia telangiectasia patients have marked _____deficiency with decreased lymphocytes and absent thymus What type of immunoglobulin

IgA

Most common type of malignancy in ataxia telangiectasia

Lymphoma (B cell) Leukemia Breast

Diagnosis for ataxia telangiectasia

High AFP and carcinoembryonic antigen

Group of rare genetic disorders with formation of blisters in response to minor physical injury

Epidermolysis bullosa

Internal involvement in EB primarily seen in recessive dystrophic type and also in junctional type

Esophageal and laryngeal

What type of EB EM- cleavage below basal lamina, anchoring fibrils are diminished or absent

Recessive dystrophic

Roof or base (antigen localization): EB Simplex

Base

Roof or base (antigen localization): Dystrophic EB

Roof

Roof or base (antigen localization): Junctional EB

BP antigen- roof Type 4 collagen- base LDA1- base

Type of epidermolysis bullosa where the mucous membranes and nails are not usually involved

EB Simplex intermediate

Gene mutations in EB simplex produce abnormality in which keratins?

Keratin 5 and 14

Separation in EB simplex occurs in what layer of the skin

Basal cell layer

Variant of EBS with active blisters in circinate configuration Milia may develop Oral mucosa involved, nails may shed but regrow

EB Simplex, generalized severe

Autosomal recessive Severe generalized blistering at birth and extensive denudation may be fatal within a few months Sparing of hands, characteristic perioral and perinasal hypertrophic granulation tissue

Junctional EB, generalized severe

Separation of junctional EB occurs at the level of

Lamina lucida

Complete reepithelialization of Herlitz junctional EB can be achieved in

7-10 months

Dysplastic teeth are found in _____ EB while normal teeth are in ______ EB

Junctional | Dystrophic

Vesicles and bullae appear on extensor surfaces most pronounced in joints Flesh colored scarlike lesions appear on trunk Healing with scarring and atrophy Mucous membranes involved

Dystrophic EB

In dystrophic EB, cleavage occurs at the level of

Beneath basal lamina

Clinical variant of dystrophic EB where there are mechanoblisters and nail deformities Associated with mandibulofacial dysostosis, renal aplasia and congenital abnormalities of lower extremities

Bart syndrome

Autosomal recessive, shares some features with dystrophic EB Skin fragility with blistering, acral bullae, generalized poikiloderma with atrophy Photosensitivity, acral keratoses, periodontal disease and phimoses

Acrokeratotic poikiloderma

Principal histologic change in acrokeratotic pokiloderma: Absence of elastic fibers in _______ dermis and fragmented fibers in ______ dermis

Papillary | Mid

Trauma induced skin fragility and defects of hair, nails and sweat glands Blisters noted on pressure points especially after prolonged standing or walking Mutation in PKP1 gene

McGrath syndrome | Ectodermal dysplasia/ skin fragility syndrome

Generalized and mucosal blistering Mittenlike deformity- digital fusion with encasement in scar tissue Dental complications, esophageal strictures Anemia and growth retardation High risk of developing SCC

Recessive dystrophic EB, generalized severe

Persistently recurrent macerated plaques with a reticulated pattern of fissuring in flexural areas May resemble impetigo ATP2C1 gene Acanthosis and full thickness acantholysis resembling a dilapidated brick wall

Hailey Hailey disease | Familial benign chronic pemphigus

Autosomal dominant Fine scales that appear pasted on body Coarser scales on lower extremities, extensor surfaces most involved Hyperkeratosis of palms, keratosis pilaris Improves in adulthood

Ichthyosis vulgaris

Histo: compact eosinophilic orthokeratosis Granular layer reduced or absent Keratohyalin granules appear spongy or fragmented

Ichthyosis vulgaris

Type of ichthyosis due to steroid sulfatase deficiency Associated with CS birth Dark large scales prominent in anterior neck, extensors, trunk (abdomen more involved) Dramatic clearance in summer Does not improve with age

X linked icthyosis

Autosomal recessive ichthyosis present at birth Collodion like membrane, desquamation over 2-3 weeks of life Grayish brown scales Follicles have crateriform appearance Ectropion present

Lamellar ichthyosis

Lamellar ichthyosis px have decreased or absent

TGM1- transglutaminase 1 activity

Born enclosed in a parchment/collodion like membrane Ectropion of eyelids Within 24 hours of birth, fissuring and peeling cast off in 10-14 days with rapid improvement, left with redness and scaling

Non Bullous congenital ichthyosiform erythroderma

Ichthyosiform erythroderma is associated with what disease

Neutral lipid storage disease

Disorder that affect the skin in utero Thick, horny, armorlike plates covering surface Rudimentary/absent ears, eclabium, entropion Child stilborn

Harlequin fetus

Blisters at or shortly after birth Thickened, horny or spinelike ridged scales later Prominent at flexures Mutation in genes for K1 and K10 Less severe with age

Epidermolytic ichthyosis/hyperkeratosis

Treatment of epidermolytic hyperkeratosis

High dose vitamin A 750,000U daily x 2 weeks | Systemic retinoids

Lack of erythema Mild hyperkeratosis limited to flexures Superficial mottling/peeling (“mauserung phenomenon “)

Ichthyosis bullosa of Siemens

Acquired ichthyosis can be due to

``` Hodgkin/non hodgkin disease Hypothyroidism Sarcoidosis Hansen, AIDS, LE, dermatomyosistis Drugs: nicotinic acid, statins ```

Abnormal facies, tight skin, sparse eyelashes and secondary joint changes Associated with polyhydramnios, reduced fetal movement and premature delivery

Restrictive dermopathy

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