some genodermatoses and acquired syndromes part 2
Skip this Video
Download Presentation
Some Genodermatoses and Acquired Syndromes Part 2

Loading in 2 Seconds...

play fullscreen
1 / 83

Some Genodermatoses and Acquired Syndromes Part 2 - PowerPoint PPT Presentation

  • Uploaded on

Some Genodermatoses and Acquired Syndromes Part 2. Rick Lin, DO MPH KCOM Dermatology Department Texas Division. Sjogren-Larsson Syndrome. Ichthyosis Spastic paralysis Oligophrenia MR Degenerative retinitis Flexural and lower abdominal accentuation Central face is spared

I am the owner, or an agent authorized to act on behalf of the owner, of the copyrighted work described.
Download Presentation

PowerPoint Slideshow about 'Some Genodermatoses and Acquired Syndromes Part 2' - tanaya

An Image/Link below is provided (as is) to download presentation

Download Policy: Content on the Website is provided to you AS IS for your information and personal use and may not be sold / licensed / shared on other websites without getting consent from its author.While downloading, if for some reason you are not able to download a presentation, the publisher may have deleted the file from their server.

- - - - - - - - - - - - - - - - - - - - - - - - - - E N D - - - - - - - - - - - - - - - - - - - - - - - - - -
Presentation Transcript
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
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 syndrome1
Sjogren-Larsson Syndrome
  • Autosomal recessive, localized to chromosome 17p11.2
  • Fibroblast and leukocyte deficiency in fatty aldehyde dehydrogenase (FALDH)
refsum s syndrome
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
Rud’s Syndrome
  • Ichthyosis
  • Hypogonadism
  • Small stature
  • Mental retardation
  • Epilepsy
  • Macrocytic anemia
  • Retinitis pigmentosa
  • AR
kid syndrome
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
CHILD Syndrome
  • AKA
  • Congenital Hemidysplasia with
  • Ichthyosiform Erythroderma and
  • Limb Defects
  • (CHILD)
  • X-linked, female only
  • Unilateral ILVEN
erythrokeratodermia variabilis
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
Progressive Symmetric Erythrokeratodermia
  • Rare, AD
  • Symmetrically distributed on extremities, buttocks, and spare the trunk
  • Treatment include keratolytics, corticosteroids, retinoids.
acquired ichthyosis
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
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
Keratosis Pilaris
  • AD condition
  • Facial involvement may be mistaken for acne
  • Keratolytic and topical vitamin D and topical retinoids are effective
follicular atrophoderma
Follicular Atrophoderma
  • Consist of follicular indentation
  • 1mm wide, without hair
  • Extensor surface of hands, legs, and arms
keratosis pilaris atrophicans
Keratosis Pilaris Atrophicans
  • Three syndromes
  • Keratosis pilaris atrophicans faciei
  • Atrophoderma vermiculata
  • Keratosis pilaris follicularis spinulosa decalvans
keratosis pilaris atrophicans faciei and ulerythema ophoryogenes
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
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
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
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
  • Heterogenous group of disorders
  • Characterized by cornoid lamella on histology
porokeratosis of mibelli
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
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
Linear Porokeratosis
  • Porokeratosis following lines of Blaschko
darier s diseases
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
Acrokeratosis Verruciformis of Hopf
  • Numerous flat verrucous papules on back of the hands, knees, and elbows
  • AD
pachyonychia congenita
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
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
Congenital Ectodermal Defects
  • Hypohidrotic ectodermal dysplasia
  • Hidrotic ectodermal dysplasia
  • And tons of other ones
hypohidrotic ectodermal dysplasia and anhidrotic ectodermal dysplasia
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
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
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
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
Aplasia Cutis Congenita
  • Congenital defect of the skin
  • Absence of skin and subcutaneous tissue of the cranium
focal dermal hypoplasia
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
Cockayne’s Syndrome
  • Dwarfism
  • Retinal atrophy
  • Deafness
  • Photodermatitis
  • Telangiectasia
  • Microcephaly, sunken eyes, and characteristic facial appearance
werner s syndrome
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
  • AKA Hutchinson-Gilford Syndrome
  • Dwarfism
  • Alopecia
  • Generalized atrophy of the skin
  • Enlarge head
  • Fatal by second decade
congenital auricular fistula
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
Branchial Cleft Cyst
  • Developmental anomaly
  • Exude sebum like material
  • AD with incomplete penetrance
popliteal pterygium syndrome
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
Other Congenital Anomalies that we will all miss together on the board….
  • Franceschetti-Klein syndrome
  • Apert’s Syndrome
  • Whistling Face syndrome