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Genodermatosis Part II Chapter 27 - Andrews

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

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 patient’s display a palmoplantar keratoderma associated with peeling Systemic retinoids

7 Acquired Ichthyosis Similar to ichthousis vulgaris Systemic diseases
Hodgkin’s 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, Bowen’s 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 Darier’s 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 Darier’s Disease

17 Darier’s 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


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


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 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


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(Albright’s 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


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 Keratosis Follicularis Spinulosa Decalvans(Siemens-1 Syndrome)
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


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