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Genodermatosis Part II Chapter 27 - Andrews


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Title: Genodermatosis Part II Chapter 27 - Andrews

Genodermatosis Part IIChapter 27 - Andrews
  • Boris Ioffe, D.O.
  • KCOM-Texas Division
  • 06-27-06

Rud Syndrome
  • Ichthyosis, hypogonadism, small stature, MR,
    acanthosis nigricans, epilepsy, macrocytic anemia
  • Autosomal recessive inheritance in most cases
  • Maybe a variant of Sjorgen-Larsson syndrome or
    Refsum syndrome

Keratitis-Ichtyosis-Deafness Synrome
  • Aka Senter syndrome
  • Vascularization of the cornea, extensive
    congenital ichthyosiform eruption, neurosensory
    deafness, reticulated hyperkeratosis of the palms
    and soles, hypotrichosis, partial anhidrosis,
    nail dystrophy and tight heel cords
  • Distinctive leathery verrucoid plaques involving
    central portion of the face and ears
  • Missense mutation in GJB2 gene, most cases
  • Isotretinoin may exacerbate and promote corneal
    vascularization, not with acitretin

KID Syndrome
Congenital Hemidysplasia with Ichthyosiform
Erythroderma and Limb Defects Syndrome
  • CHILD Syndrome
  • Unilateral inflammatory epidermal nevi and
    ipsilateral limb hypoplasia or limb defect
  • Features vary widely
  • X-linked dominant
  • NSDHL gene on Xq28 chromosome
  • Suspect when unilateral epidermal nevi shows
    features of verruciform xanthoma

Erythrokeratodermia Variabilis
  • Aka erythrokeratodermia figurata variabilis and
    Mendes da Costa type erythrokeratodermia
  • AD
  • Erythematous patches and hyperkeratotic plaques
    of sparse but generalized distribution
  • Change shape or size and may involute completely
  • 50 of patients display a palmoplantar
    keratoderma associated with peeling
  • Systemic retinoids

Acquired Ichthyosis
  • Similar to ichthousis vulgaris
  • Systemic diseases
  • Hodgkins disease
  • NHL, MF, MM, and carcinomatosis
  • Sarcoidosis, especially over the lower
  • Others leprosy, nutritional deficiency, AIDS,
    human T-cell lymphocytic virus, LE, etc.

Pityriasis Rotunda
  • Perfectly circular scaly patches on the torso and
    proximal portions of the extremities
  • Scale is adherent and resembles that of icthyosis
  • Ethnic predisposition to blacks, Japanese,
    Koreans, and Italians, some association with
    systemic disease
  • DDx TV, tinea corporis, erythrasma, leprosy,
    fixed drug eruption, and pityriasis alba
  • TX emollients, topical and systemic steroids.

  • AD, heterogenous group of disorders
  • Distinct finding of keratotic ridge with central
    groove that corresponds to coronoid lamella on
  • May be accenuated by gentian violet, povidone
    iodine or permanent markers
  • TX Topical 5-FU, topical retinoids, vitamin D3
    analogues, oral retinoids

Plaque-Type Porokeratosis
  • Mibelli
  • Chronic, progressive dz with formation of
    slightly atrophic patches surrounded by an
    elevated, warty border
  • Spreads peripherally
  • Surfaces of the hands and fingers and the feet
    and ankles
  • Histology coronoid lamella, a column of
    parakertotic keratin extending 45 degrees from a
    focus of dyskeratotic cells

Disseminated Superficial Actinic
  • Numerous superficial, annular, keratotic,
    brownish-red macules on sun exposed areas
  • More common in women
  • Exacerbations occur during summer, also in
    immunosupressed patients
  • Gene loci have been localized to chromosomes 12
    and 15

Linear Porokeratosis
  • Segmental or generalized
  • Maybe identified during newborn period when it
    follows lines of Blaschko
  • Ulcerations and erosions may delay the diagnosis
  • Highest risk of developing cutaneous malignancies
  • SCC, Bowens disease and BCC

Porokeratosis Palmaris, Plantaris et Disseminata
  • Lesions first appear on palms and soles
  • Onset in 20s
  • May slowly extend over the entire body
  • May be part of the porokeratotic eccrine ostial
    and dermal duct nevus

Dariers Disease
  • Aka Keratosis Follicularis, Darrier-White Disease
  • AD
  • Brown keratotic papules that coalesce into
    patches in seborrheic distribution
  • Each papule becomes covered with greasy,
    gray-brown crust that fits into a small concavity
    in the summit of the papule
  • Neck, shoulders, face, extremities, front of the
    chest, midline of the back sites of
  • Early lesions are frequently behind the ears
  • Worse in the summer
  • Induced by lithium carbonate
  • Disseminates herpes simplex may be a complication

Dariers Disease
Dariers Disease
  • ATP2A2 gene encoding calcium ATPase
  • Impairs trafficking of desmoplakin, contributing
    to acatholysis
  • Histo
  • Acantholytic dyskeratotis with overlying
  • Corp ronds and grains

Darier Disease
  • Treatment
  • Topical antibacterials, oral antibiotics and
    short-term application of corticosteroid may
  • Oral retinoids are drugs of choice
  • Cyclosporin for sever flares
  • Topical sunscreens and ascrobic acid
  • Photodynamic therapy has been tried

Acrokeratosis Verruciformis
  • AD
  • Numerous flat verrucous papules occuring on the
    back of the hands, insteps, knees and elbows
  • Closely grouped and resemble warts
  • Verrucous lesions identical to Darier
  • Histo
  • Hyperkeratotis, thickening of the granular layer
    and church spire papillomatotis

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Pachonycia Congenita
  • Thickened nailbeds of all fingers and toes,
    palmar and plantar hyperkeratosis, blistering
    under the callosities, palmar and plantar
    hyperhidrosis, spiny follicular keratoses, and
    benign leukokeratosis of the mucous membranes
  • Nailbed is filled with yellow, horny, keratotic
    debris, which may cause nail to project upwards
  • Painful friction blisters may develop on the
    plantar aspects of toes

Pachyonychia Congenita
  • Types
  • Type I Jadassohn-Lewandowsky most common
  • Type II Jackson-Sertoli similar to type I with
    natal teeth and steatocystoma multiplex
  • Less severe keratoderma
  • Absence of oral lesions

Pachyonychia Congenita
  • Type III
  • Schafter-Branauer
  • Leukokeratosis of corneas
  • Type IV
  • Pachyonychia congenita tarda
  • Hyperpigmentation around the neck, waist,
    axillae, thighs and flexures of knees

  • Usually inherited in as an AD trait
  • Type I keratin 6a and 16
  • Type II keratin 6b and 17
  • TX
  • Avulsion of the nails
  • Destruction of the nail matrix with phenol
  • Topical lactic acid, ammonium lactate, salycilic
    acid or urea for keratoderma
  • Isotretinoin for keratotic papules and oral
  • Acitretin for late-onset form

Dyskeratosis Congenita
  • Zinsser-Cole-Engman syndrome
  • Cutaneous poikoloderma, nail dystrophy and
    premalignant leukoplakia
  • Atrophy and telangectasia accompanied by mottled
    hyper- and hypo-pigmented macules
  • Nails may be thin and dystrophic
  • Leukoplakia on oral mucosa

Dyskeratosis Congenita
  • Other manifestations
  • Hyperhydrosis of palms and soles, bullous
    conjunctivitis, gingival disorders, dysphagia
    resulting from esophageal strictures and
  • Fanconi anemia
  • Defect for X-linked form located on Xq28 with
    DKC1 gene
  • G-CSF and erythropoetin for bone marrow failure
  • Bone marrow transplantation

Fanconi Syndrome
  • Aka familial pancytopenia or familial
  • Diffuse pigmentation of the skin, absence of
    thumbs, aplasia of the radius, severe hypoplastic
    anemia, thrombocytopenia, retinal hemorrhage,
    strabismus, generalized hyperreflexia
  • Increased risk of leukemia, SCC and hepatic
  • Autosomal-recessive with multiple genes involved

Ectodermal Dysplasias
  • Heterogeneous group of genodermatosis with
    abnormal, absent, incomplete or delayed
    development during embryogenesis of one or more
    of epidermal or mucosal appendeges(hair,
    sebaceous glands, nails and teeth)

Hypohidrotic Ectodermal Dysplasia
  • Classic triad
  • Hypotrichosis, anodontia, and hypohydrosis
  • Eccrine glands are absent or rudimentary
  • Facies suggestive of congenital syphillis
  • X-linked recessive
  • EDA1, EDAR, and EDARADD genes
  • If linked with immuno defeciencies than NF-kappaB
    modulator, NEMO and inhibitor kappaB kinase

Hidortic Ectodermal Dysplasia
  • Clouston syndrome
  • AD
  • Eccrine sweat glands function normally and facial
    features are normal
  • Alopecia, nail dystrophy, palmoplantar
    hyperkeratosis and eye changes such as cataracts
    and strabismus
  • May be similar to pachyonychia congenita

Ectodermal Dysplasias
  • AEC Syndrome(Hays-Wells)
  • Ankyloblepharon, ectodermal defects and cleft lip
    or palate
  • Sparse hair, dental defects, dystrophic nails,
    hypospadias, syndactyly, etc.
  • Erosive scalp dermatitis
  • EEC Syndrome
  • Ectodermal dysplasia, ectrodactyly(congenital
    absence of all or part of digits), and cleft

Ectodermal Dysplasias
  • Rapp-Hodgkin Ectodermal Dysplasia Syndrome
  • Anomalies of hair, cleft lip/palate,
    onychodysplasia, dental caries, hypodontia,
    craniofacial abnormalities, hypohydrosis, otitis
    media and hypospadias
  • Ectodermal Dysplasia with Corckscrew Hairs
  • Margarita Island of Venezuela
  • Corkscrew hair, scalp keloids, follicular
    plugging, KP, xerosis, eczema, PPK, syndactyly,

Ectodermal Dysplasias
  • Other syndromes
  • Odonto-Tricho-Ungual-Digital-Palmar Syndromes
  • Costello Syndrome
  • Lenz-Majewski Syndrome
  • CHIME Syndrome
  • Lelis Syndrome

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  • Thickening of skin in folds and accentuation of
    creases on the face and scalp, clubbing of
    fingers and periostosis of long bones
  • Thickening of the ears and lips, enlargement of
    the tongue, thickening of the scalp
  • Inherited and acquired forms
  • Acquired forms with chronic pulmonary,
    mediastinal and cardiac diseases(bronchogenic

Cutis Verticis Gyrata
  • Folds and furrows on the scalp, usually in
    anterioposterior direction
  • Primarily males, onset at puberty , maybe a part
    of pachydermoperiostosis if familial
  • Associated with
  • Developmental anomalies, inflammation, trauma,
    tumors, nevi, amyloidosis, syphillis, myxedema,
    Ehlers-Danlos, Turner, Klienfelter, fragile X
    syndrome, and insulin resistance syndrome
  • Also seen in MR, seizures and schizophrenic

Aplasia Cutis Congenita
  • Predeliction for midline of the vertex of the
  • Absences of skin and rarely full-thickness defect
    of the cranium
  • Associated with thyroid disease and thyroid
  • hair collar sign ring of dark, long hair
    encircling the lesion

Focal Dermal Hypoplasia
  • Goltz Syndrome
  • Abnormalities in mesodermal and ectodermal
  • Reddish-tan, atrophic, often linear or cribiform
    patches are commonly present on the buttocks,
    axillae and thighs
  • Lipocytes accumulate in the lesions in nevoid
  • 80 have skeletal defects
  • 40-50 dental abnormalities
  • Scoliosis, spina bifida and hypoplasia of the

Werner Syndrome
  • Adult Progeria
  • Premature aging syndrome
  • Many metabolic and structural abnormalities
    affecting numerous organs
  • Cells demonstrate genomic instrability
  • Diagnosed in middle age, die before 50
  • Senile cataracts, premature balding and graying,
    scleroderma-like lesion on the skin
  • Loss of subcutaneous tissue and muscle wasting
  • Osteoporosis and aseptic necrosis
  • Skin poikiloderma, scleroderma, atrophy,
    hypekeratoses and leg ulcers
  • High rate of malignancy

  • Hutchinson-Gilford Syndrome
  • Accelerated aging, dwarfism, alopecia,
    generalized atrophy of the skin and muscles,
    enlarged head with prominent scalp veins and high
    incidence of atherosclerosis
  • Death by second decade
  • Mutations in LMNA

Xeroderma Pigmentosum
  • Autosomal-recessive
  • Defective DNA thymidine dimer excision repair
  • Extreme sun sensitivity, freckling, and skin
  • Skin cancers appear before age 10
  • Ocular abnormalities ectropion, corneal
    opacity, and neoplasms
  • Retinoids can prevent appearance of new cancers
  • Photo-protection essential management
  • Gene therapy is being pursued
  • Skin tumors have mutations in ras, p53 and ptch

Xeroderma Pigmentosum
Cockayne Syndrome
  • Sun sensitivity and neurologic degeneration
  • No freckling and skin ca
  • Dwarfism, beaked nose, loss of subcutaneous
    tissue, deafness, basal ganglia calcification,
    and retinopathy
  • Dwarfism with retinal atrophy and deafness
  • Mutations in XPB or XPD DNA helicases can result
    in XP, Cockayne syndrome or trichothiodystrophy

  • Xeroderma Pigmentosum/Cockayne Syndrome Complex
  • Skin features of XP and neurologic features of
    Cockayne syndrome
  • Complementation groups B, D, and G

  • Photosensitivity, itchthyosis, brittle hair,
    intelectual impairment, decreased fertility, and
    short stature(PIBIDS)
  • Similar to Tay syndrome plus photosensitivity
  • No increase in skin cancers
  • Hair has decreased sulfur content of 50
  • Polarized light shows alternating dark and bright
  • Light microscophy trichoschisis and
    trichorrhexis nodosa

Bloom Syndrome
  • Bloom-Torre-Machecek Syndrome
  • AR, eastern European Jews
  • Photosensetive telangiectatic erythema in the
    butterfly area of the face and dwarfism
  • Resemble LE and develop in first 2 years
  • Café-au-lait spots, itchthyosis, acanthosis
    nigricans, syndactyly, irregular dentition,
    prominent ears
  • Increased frequency of cancers of all cell types
  • BLM gene coding for RecQ DNA-helicase

Rothmund-Thomson Syndrome
  • Poikiloderma congenitale
  • Poikiloderma beings at 3 to 6 months of age with
    tense, pink, edematous pathces on the cheeks,
    hands, feet and buttocks
  • Sensitivity to sunlight
  • Fine reticulated or punctate atrophy associated
    with telengectasias
  • Broad range on noncutaneous lesions
  • Mutations in RECQ4L gene

Hereditary Sclerosing Poikiloderma and
Mandibuloacral Dysplasia
  • Poikiloderma in childhood
  • Hypekeratotic and clerotic cutaneous bands
    extending across antecubital spaces, axillary
    vaults, and popliteal fossa
  • Aortic stenosis, clubbing of fingers, and
    localized calcinosis
  • No Treatement
  • Weary has reported several cases of
    Mandibuloacral Dysplasia

Other Syndromes
  • Scleroatrophic syndrome of Huriez
  • Scleroatrophy of hands with sclerodactyly
  • Ridging, clubbing, or hypoplasia of nails
  • Lamellar keratoderma of hands and soles
  • Franceschetti-Klein Syndrome
  • Palbebral antimongoloid fissures, hypoplasia of
    facial bones, macrostomia, vaulted palate,
    malformation of both the external and internal
    ear, buccal-auricular fistula

Other Syndromes
  • Treacher Collins Syndrome
  • Popliteal Pterygium Syndrome
  • Van Der Woude Syndrome
  • Apert Syndrome
  • Pfeiffer Syndrome
  • Crouzon Syndrome
  • Whistling Face Syndrome

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Syndromes that include abnormalities of the hair
  • Hallerman-Streiff Syndrome
  • bird facies, congenital cataracts,
    micropthalmia, hypotrichosis and dental
  • Nose is thing,sharp and hooked and the chin is
  • Hair is diffusely sparse and brittle
  • Baldness frontally or at the scalp margins
  • Polyostotic Fibrous Dysplasia(Albrights Disease)
  • Slowly progressive lifelong unilateral hair loss

Syndromes that include abnormalities of the hair
  • Cronkhite-Canada Syndrome
  • Alopecia, skin pigmentation, onychodystrophy,
    malabsorption and generalized GI polyposis
  • Marinesco-Sjogren Syndrome
  • Trichothiodystrophy
  • Generalized Trichoepitheliomas
  • Alopecia and myasthenia gravis

Syndromes that include abnormalities of the hair
  • Crow-Fukase(POEMS) syndrome
  • Polyneuropathy, organomegaly, endocrinopathy,
    M-protein, and skin changes
  • Cartilage-Hair Hypoplasia
  • Tricho-Rhino-Phalangeal Syndrome
  • Papillon-Lefevre Syndrome
  • Kippel-Feil Syndrome
  • McCusick Syndrome
  • Atrichia with Papules

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Keratosis Pilaris
  • Mild cases are limited to posterior upper arms,
    thighs the next most common site, may occur on
    the face, buttocks, trunk and legs
  • Facial involvement may be confused with acne
  • Individual lesions are small, acuminate,
    follicular papules with keratotic plug, erythema
    may be present
  • Prone to appear in xerotic or atopic patients
  • AD inheritance
  • Other associated conditions
  • Ichthyosis vulgaris, atrichia with papular
    lesions, mucoepidermal dysplasia,
    cardiofacio-cutaneous syndrome, ectodermal
    dysplasia with corkscrew hair, and KID syndrome

Keratosis Pilaris
  • Treatment
  • Difficult
  • 12 ammonium lactate causes smoothing but does
    not reduce erythema
  • Topical calcipotriene
  • Topical retinoids
  • Topical salicylic acid or urea

Follicular Atrophoderma
  • Follicular indentations without hairs, notably
    occuring on extensor surfaces of hands, legs, and
  • Scrotal tongue
  • Associated with
  • X-linked dominant chondrodysplasia punctata,
    Bazex syndrome and keratosis palmoplantaris

Keratosis Pilaris Atrophicans
  • Three syndromes
  • Keratosis pilaris atrophicans facei
  • Atrophoderma vermiculata
  • Keratosis pilaris follicularis spinulosa decalvans

Keratosis Pilaris Atrophicans Faciei and
Ulerythema Ophryogenes
  • Persistant erythema and small horny follicular
    papule with onset during childhood
  • On involution these leave pitted scars and
    atrophy resulting in alopecia
  • Involves eyebrows and neighboring scalp
  • May begin on cheeks and temple
  • Histo follicular hyperkeratosis of the upper
    third of the follicle
  • Maybe seen in atopy and Noonan syndrome

Atrophoderma Vermiculata
  • Symmetricla involvement of the face by numerous
    closely crowded small areas of atrophy separated
    by narrow ridges producing cribiform or honeycomb
  • Worm-eaten(vermiculate) appearance
  • Cause is undertermined
  • Skin covering the ridges is even with normal skin

  • Rombo syndrome
  • Atrophodermia vermiculata, cyanosis of hands and
    feet, milia, telangectases, hypotrichosis,
    multiple BCCs, and trichoepitheliomas
  • Keratosis Follicularis Spinulosa
    Decalvans(Siemens-1 Syndrome)
  • KP begins on the face and progresses to scalp,
    limbs and trunk
  • Cicatricial alopecia
  • Associated with atopy, photophobia, and corneal
  • Deafness, physical and mental retardation,
    recurren infections, nail abnormailites and

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