Some Genodermatoses and Acquired Syndromes Part 2

Some Genodermatoses and Acquired Syndromes Part 2 Rick Lin, DO MPH KCOM Dermatology DepartmentTexas Division

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)

Refsum’s Syndrome • Ichthyosis with atypical retinitis pigmentosa • Hypertrophic peripheral neuropathy • Cerebellar ataxia • Nerve deafness • EKG changes • Deficiency of phytanol-CoA hyroxylase localized in chromosome 10

Rud’s Syndrome • Ichthyosis • Hypogonadism • Small stature • Mental retardation • Epilepsy • Macrocytic anemia • Retinitis pigmentosa • AR

KID Syndrome • AKA congenital ichthyosiform syndrome with deafness and keratitis • Extensive congenital ichthyosiform eruption • Neurosensory deafness • Hypotrichosis • Partial anhidrosis • Vascularization of cornea • Nail dystrophy • Tight heel cords

CHILD Syndrome • AKA • Congenital Hemidysplasia with • Ichthyosiform Erythroderma and • Limb Defects • (CHILD) • X-linked, female only • Unilateral ILVEN

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.

There is slight psoriasiform hyperplasia with compact orthokeratosis and a diminished granular layer.

Keratosis Pilaris • AD condition • Facial involvement may be mistaken for acne • Keratolytic and topical vitamin D and topical retinoids are effective

Follicular Atrophoderma • Consist of follicular indentation • 1mm wide, without hair • Extensor surface of hands, legs, and arms

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

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

Linear Porokeratosis • Porokeratosis following lines of Blaschko

Porokeratosis Palmaris, Plantaris, et Disseminata Palms and sole or both

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.

Acrokeratosis Verruciformis of Hopf • Numerous flat verrucous papules on back of the hands, knees, and elbows • AD

Some Genodermatoses and Acquired Syndromes Part 2

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