Sjogren-Larsson Syndrome Ichthyosis Spastic paralysis Oligophrenia MR Degenerative retinitis Flexural and lower abdominal accentuation Central face is spared Ectropion is unusual Palms and soles are involved
Sjogren-Larsson Syndrome Autosomal recessive, localized to chromosome 17p11.2 Fibroblast and leukocyte deficiency in fatty aldehyde dehydrogenase (FALDH)
Erythrokeratodermia Variabilis AKA Medes da Costa, erythrokeratoderma variabilis, etc Keratoderma of palms and soles AD, 1p34-p35, coding for gap junction protein Histo: hyperkeratosis with parakeratosis and diminished granular layer
Progressive Symmetric Erythrokeratodermia Rare, AD Symmetrically distributed on extremities, buttocks, and spare the trunk Treatment include keratolytics, corticosteroids, retinoids.
Acquired Ichthyosis Similar to ichthyosis vulgaris clinically Develop any age with several systemic diseases Hodgkins Non-hodgkins lymphoma MF Multiple myeloma CA Hypothyroidism
Pityriasis Rotunda Perfectly circular, hyperkeratotic and hypopigmented macules 2 forms: Type 1 found in blacks and Asians, has hyperpigmented lesions with less than 30 in numbers Type 2 occur in white patients, has hypopigmented lesions with more than 30 in numbers.
Keratosis Pilaris Atrophicans Faciei and Ulerythema Ophoryogenes Persistent erythema and small horny follicular papules onset during childhood On involution these leave pitted scars and atrophy with resulting alopecia Ulerythema Ophoryogenes describes involvement limited to the lateral third of the eyebrow KPAF involvement extent to the cheek and forehead
Atrophoderma Vermiculata Symmetrical involvement of face by numerous closely crowded small areas of atrophy separated by narrow ridges. Honeycomb surface Worm eaten (vermiculata)
Rambo Syndrome Grainy skin Multiple BCCs, triepitheliomas, hypotrichosis Perculiar cyanosis of the hands and feet 2 patients reported Examples of the entity I will chose to skip.
Keratosis Follicularis Spinulosa Decavans KFSD begins on the face at any age up to adolescence Involve limbs and trunk Hyperkeratosis of palms and soles Follow by loss of hair and scarring Cicatricial alopecia of scalp and eyebrow is the hallmark of this disease
Porokeratosis Heterogenous group of disorders Characterized by cornoid lamella on histology
Porokeratosis of Mibelli Chronic progressive disease Atrophic patches surround by elevated border Predilection are the surface of hands and finger and the feet and ankle Onset early in life and persist indefinitely Treatment: 5FU, Cryo, CO2
Disseminated Superficial Actinic Porokeratosis DSAP is numerous superficial annular keratotic brownish red papules More common in women Assn with AIDS, cirrhosis, Crohn’s, immunosupression Cryo and 5-FU
Darier’s Diseases AKA Keratosis Follicularis Dirty, warty, papular excrescences tend to coalesce into patches Punctate keratosis V-nicking and red white banding Worse in summer AD 1:100,000 Corps ronds and grains Treatment: Tazarac and Accutane.
Pachyonychia Congenita Excessively thickened nails of all fingers and toes Palmar and plantar hyperkeratosis Follicular keratosis Painful friction blisters may develop 4 types have been described. Type one most common
Dyskeratosis Congenita Atrophy and reticular pigmentation of sky Dystrophy of the nails Leukoplakia Hyperhidrosis of palms and soles Skeletal anomalies and esophageal stricture X-linked recessive traint Xq28 locus
Bunch of the entities I skip EEC S. Rapp-Hodgkin Ectodermal Dysplasia s. Ectodermal dysplasia with corkscrew hair s. Odonto-tricho-ungual-digital-palmar s. Costello s. Lenz-Majewski s. Naegeli-Franceschetti-Jadassohn s. CHIME s. Pachydermoperostosis Ladd-Lin s.
Cutis Verticis Gyrata Folds and furrows on the scalp Vertex is involved M:F=6:1 90% patient developed by age 30 Assn with MR and schizophrenia
Focal Dermal Hypoplasia AKA Goltz’s Syndrome Syndactyly, oligodactyly, and adactyly Multiple abnormality of mesoderma and ectodermal tissues Yellowish brown nodules on buttocks, axillae, and thighs X-linked dominant
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