some genodermatoses and acquired syndromes part 2
Download
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


  • 124 Views
  • 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

loader
I am the owner, or an agent authorized to act on behalf of the owner, of the copyrighted work described.
capcha
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.
slide23

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
porokeratosis
Porokeratosis
  • 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
slide60

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

slide61

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
progeria
Progeria
  • 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
ad