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Genodermatosis Part II Chapter 27 - Andrews

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Title: Genodermatosis Part II Chapter 27 - Andrews


1
Genodermatosis Part II Chapter 27 - Andrews
  • Boris Ioffe, D.O.
  • KCOM-Texas Division
  • 06-27-06

2
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

3
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
    sporadic
  • Isotretinoin may exacerbate and promote corneal
    vascularization, not with acitretin

4
KID Syndrome
5
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

6
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

7
Acquired Ichthyosis
  • Similar to ichthousis vulgaris
  • Systemic diseases
  • Hodgkins disease
  • NHL, MF, MM, and carcinomatosis
  • Sarcoidosis, especially over the lower
    extremities
  • Others leprosy, nutritional deficiency, AIDS,
    human T-cell lymphocytic virus, LE, etc.

8
Pityriasis Rotunda
  • Perfectly circular scaly patches on the torso and
    proximal portions of the extremities
  • Scale is adherent and resembles that of icthyosis
    vulgaris
  • 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.

9
Porokeratosis
  • AD, heterogenous group of disorders
  • Distinct finding of keratotic ridge with central
    groove that corresponds to coronoid lamella on
    histology
  • May be accenuated by gentian violet, povidone
    iodine or permanent markers
  • TX Topical 5-FU, topical retinoids, vitamin D3
    analogues, oral retinoids

10
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

11
Porokeratosis
12
Disseminated Superficial Actinic
Porokeratosis(DSAP)
  • 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

13
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

14
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

15
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
    prediliction
  • Early lesions are frequently behind the ears
  • Worse in the summer
  • Induced by lithium carbonate
  • Disseminates herpes simplex may be a complication

16
Dariers Disease
17
Dariers Disease
  • ATP2A2 gene encoding calcium ATPase
  • Impairs trafficking of desmoplakin, contributing
    to acatholysis
  • Histo
  • Acantholytic dyskeratotis with overlying
    hyperkeratosis
  • Corp ronds and grains

18
Darier Disease
  • Treatment
  • Topical antibacterials, oral antibiotics and
    short-term application of corticosteroid may
    benefit
  • Oral retinoids are drugs of choice
  • Cyclosporin for sever flares
  • Topical sunscreens and ascrobic acid
  • Photodynamic therapy has been tried

19
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

20
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21
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

22
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

23
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

24
  • 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
    leukokeratosis
  • Acitretin for late-onset form

25
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

26
Dyskeratosis Congenita
  • Other manifestations
  • Hyperhydrosis of palms and soles, bullous
    conjunctivitis, gingival disorders, dysphagia
    resulting from esophageal strictures and
    diverticula
  • Fanconi anemia
  • Defect for X-linked form located on Xq28 with
    DKC1 gene
  • G-CSF and erythropoetin for bone marrow failure
  • Bone marrow transplantation

27
Fanconi Syndrome
  • Aka familial pancytopenia or familial
    panmyelopthisis
  • 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
    tumors
  • Autosomal-recessive with multiple genes involved

28
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)

29
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

30
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

31
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
    lip/palate

32
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,
    etc.

33
Ectodermal Dysplasias
  • Other syndromes
  • Odonto-Tricho-Ungual-Digital-Palmar Syndromes
  • Costello Syndrome
  • Lenz-Majewski Syndrome
  • CHIME Syndrome
  • Lelis Syndrome

34
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35
Pachydermoperiososis
  • 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
    carcinoma)

36
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
    patients

37
Aplasia Cutis Congenita
  • Predeliction for midline of the vertex of the
    scalp
  • Absences of skin and rarely full-thickness defect
    of the cranium
  • Associated with thyroid disease and thyroid
    medications
  • hair collar sign ring of dark, long hair
    encircling the lesion

38
Focal Dermal Hypoplasia
  • Goltz Syndrome
  • Abnormalities in mesodermal and ectodermal
    tissues
  • Reddish-tan, atrophic, often linear or cribiform
    patches are commonly present on the buttocks,
    axillae and thighs
  • Lipocytes accumulate in the lesions in nevoid
    fashion
  • 80 have skeletal defects
  • 40-50 dental abnormalities
  • Scoliosis, spina bifida and hypoplasia of the
    clavicle

39
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

40
Progeria
  • 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

41
Xeroderma Pigmentosum
  • Autosomal-recessive
  • Defective DNA thymidine dimer excision repair
  • Extreme sun sensitivity, freckling, and skin
    cancers
  • 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
  • www.xps.org
  • Skin tumors have mutations in ras, p53 and ptch
    gene

42
Xeroderma Pigmentosum
43
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

44
  • Xeroderma Pigmentosum/Cockayne Syndrome Complex
  • Skin features of XP and neurologic features of
    Cockayne syndrome
  • Complementation groups B, D, and G

45
Trichothiodystrophy
  • 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
    regions
  • Light microscophy trichoschisis and
    trichorrhexis nodosa

46
Trichothiodystrophy
47
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

48
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

49
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

50
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

51
Other Syndromes
  • Treacher Collins Syndrome
  • Popliteal Pterygium Syndrome
  • Van Der Woude Syndrome
  • Apert Syndrome
  • Pfeiffer Syndrome
  • Crouzon Syndrome
  • Whistling Face Syndrome

52
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53
Syndromes that include abnormalities of the hair
  • Hallerman-Streiff Syndrome
  • bird facies, congenital cataracts,
    micropthalmia, hypotrichosis and dental
    abnormalities
  • Nose is thing,sharp and hooked and the chin is
    absent
  • Hair is diffusely sparse and brittle
  • Baldness frontally or at the scalp margins
  • Polyostotic Fibrous Dysplasia(Albrights Disease)
  • Slowly progressive lifelong unilateral hair loss

54
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

55
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

56
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57
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

58
Keratosis Pilaris
  • Treatment
  • Difficult
  • 12 ammonium lactate causes smoothing but does
    not reduce erythema
  • Topical calcipotriene
  • Topical retinoids
  • Topical salicylic acid or urea

59
Follicular Atrophoderma
  • Follicular indentations without hairs, notably
    occuring on extensor surfaces of hands, legs, and
    arms
  • Scrotal tongue
  • Associated with
  • X-linked dominant chondrodysplasia punctata,
    Bazex syndrome and keratosis palmoplantaris
    disseminata

60
Keratosis Pilaris Atrophicans
  • Three syndromes
  • Keratosis pilaris atrophicans facei
  • Atrophoderma vermiculata
  • Keratosis pilaris follicularis spinulosa decalvans

61
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

62
Atrophoderma Vermiculata
  • Symmetricla involvement of the face by numerous
    closely crowded small areas of atrophy separated
    by narrow ridges producing cribiform or honeycomb
    surface
  • Worm-eaten(vermiculate) appearance
  • Cause is undertermined
  • Skin covering the ridges is even with normal skin

63
  • 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
    abnormalities
  • Deafness, physical and mental retardation,
    recurren infections, nail abnormailites and
    aminoaciduria

64
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