some genodermatoses and acquired syndromes part 2 rick lin, do mph kcom dermatology department texas...
TRANSCRIPT
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