Some Genodermatoses and Acquired Syndromes Part 2

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Some Genodermatoses and Acquired Syndromes Part 2

• Rick Lin, DO MPH
• KCOM Dermatology DepartmentTexas Division

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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

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Sjogren-Larsson Syndrome

• Autosomal recessive, localized to chromosome
  17p11.2
• Fibroblast and leukocyte deficiency in fatty
  aldehyde dehydrogenase (FALDH)

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Refsums Syndrome

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

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Ruds Syndrome

• Ichthyosis
• Hypogonadism
• Small stature
• Mental retardation
• Epilepsy
• Macrocytic anemia
• Retinitis pigmentosa
• AR

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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

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CHILD Syndrome

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

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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

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Progressive Symmetric Erythrokeratodermia

• Rare, AD
• Symmetrically distributed on extremities,
  buttocks, and spare the trunk
• Treatment include keratolytics, corticosteroids,
  retinoids.

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Acquired Ichthyosis

• Similar to ichthyosis vulgaris clinically
• Develop any age with several systemic diseases
• Hodgkins
• Non-hodgkins lymphoma
• MF
• Multiple myeloma
• CA
• Hypothyroidism

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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.

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

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

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Follicular Atrophoderma

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

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Keratosis Pilaris Atrophicans

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

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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

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Atrophoderma Vermiculata

• Symmetrical involvement of face by numerous
  closely crowded small areas of atrophy separated
  by narrow ridges.
• Honeycomb surface
• Worm eaten (vermiculata)

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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.

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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

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Porokeratosis

• Heterogenous group of disorders
• Characterized by cornoid lamella on histology

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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

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Disseminated Superficial Actinic Porokeratosis

• DSAP is numerous superficial annular keratotic
  brownish red papules
• More common in women
• Assn with AIDS, cirrhosis, Crohns,
  immunosupression
• Cryo and 5-FU

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Linear Porokeratosis

• Porokeratosis following lines of Blaschko

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Porokeratosis Palmaris, Plantaris, et Disseminata

• Palms and sole or both

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Dariers 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
• 1100,000
• Corps ronds and grains
• Treatment Tazarac and Accutane.

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Acrokeratosis Verruciformis of Hopf

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

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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

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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

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Congenital Ectodermal Defects

• Hypohidrotic ectodermal dysplasia
• Hidrotic ectodermal dysplasia
• And tons of other ones

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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

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

• Cloustons syndrome
• Active eccrine sweat gland
• Facial feature normal
• AD
• Alopecia, nail dystrophy, palmoplantar
  hyperkeratosis
• Cataracts and strabismus
• 13q11-q12.1

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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.

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Cutis Verticis Gyrata

• Folds and furrows on the scalp
• Vertex is involved
• MF61
• 90 patient developed by age 30
• Assn with MR and schizophrenia

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Aplasia Cutis Congenita

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

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Focal Dermal Hypoplasia

• AKA Goltzs 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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Cockaynes Syndrome

• Dwarfism
• Retinal atrophy
• Deafness
• Photodermatitis
• Telangiectasia
• Microcephaly, sunken eyes, and characteristic
  facial appearance

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Werners Syndrome

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

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Progeria

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

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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

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Branchial Cleft Cyst

• Developmental anomaly
• Exude sebum like material
• AD with incomplete penetrance

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Popliteal Pterygium Syndrome

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

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Other Congenital Anomalies that we will all miss
together on the board.

• Franceschetti-Klein syndrome
• Aperts Syndrome
• Whistling Face syndrome

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