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

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

Congenital Ectodermal Defects

Hypohidrotic ectodermal dysplasia Hidrotic ectodermal dysplasia And tons of other ones

Hypohidrotic Ectodermal Dysplasia and Anhidrotic Ectodermal Dysplasia Hypotrochosis Anodontia Hypohidrosis to anhidrosis Absent or reduce sweating Eccrine glands are absent or rudimentary on

biopsy Facies suggest congenital syphilis X-linked recessive

Note the peg-shaped teeth, hypodontia, periorbital hyperpigmentation and sebaceous hyperplasia.

Note the flat nasal bridge, depressed nasal tip, sparse hair (scalp, eyebrows, eyelashes), peg-shaped teeth, full lips and sebaceous hyperplasia. Also note the normal secondary hair in adults.

Hidrotic Ectodermal Dysplasia

Clouston’s syndrome Active eccrine sweat gland Facial feature normal AD Alopecia, nail dystrophy, palmoplantar

hyperkeratosis Cataracts and strabismus 13q11-q12.1

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

Aplasia Cutis Congenita

Congenital defect of the skin Absence of skin and subcutaneous tissue of

the cranium

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

Cockayne’s Syndrome

Dwarfism Retinal atrophy Deafness Photodermatitis Telangiectasia Microcephaly, sunken eyes, and

characteristic facial appearance

Werner’s Syndrome

Aka adult progeria Premature-aging syndrome Growth arrest at puberty Senile cataracts in late 20 Premature graying and balding at 30’s High rate of malignancy

Progeria

AKA Hutchinson-Gilford Syndrome Dwarfism Alopecia Generalized atrophy of the skin Enlarge head Fatal by second decade

Congenital Auricular Fistula

Anomaly occurs in preauricular region Anterior to external ear there is a small

dimple, pore, or fistulous opening Scrofuloderma or EIC may develop

Branchial Cleft Cyst

Developmental anomaly Exude sebum like material AD with incomplete penetrance

Popliteal Pterygium Syndrome

Pterygia or skinfold may extend from thigh down to heel thus prevent extension or rotation of the legs

AD

Other Congenital Anomalies that we will all miss together on the board…. Franceschetti-Klein syndrome Apert’s Syndrome Whistling Face syndrome