Some genodermatoses and acquired syndromes part 2
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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

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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 orthokeratosis and a diminished granular layer.

  • AD condition

  • Facial involvement may be mistaken for acne

  • Keratolytic and topical vitamin D and topical retinoids are effective


Follicular atrophoderma
Follicular Atrophoderma orthokeratosis and a diminished granular layer.

  • Consist of follicular indentation

  • 1mm wide, without hair

  • Extensor surface of hands, legs, and arms


Keratosis pilaris atrophicans
Keratosis Pilaris Atrophicans orthokeratosis and a diminished granular layer.

  • 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 Ophoryogenes

  • 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 Ophoryogenes

  • 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 Ophoryogenes

  • 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 Ophoryogenes

  • Heterogenous group of disorders

  • Characterized by cornoid lamella on histology


Porokeratosis of mibelli
Porokeratosis of Mibelli Ophoryogenes

  • 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 Ophoryogenes

  • 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 Ophoryogenes

  • Porokeratosis following lines of Blaschko


Porokeratosis palmaris plantaris et disseminata
Porokeratosis Palmaris, Plantaris, et Disseminata Ophoryogenes

Palms and sole or both


Darier s diseases
Darier’s Diseases Ophoryogenes

  • 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 Ophoryogenes

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

  • AD


Pachyonychia congenita
Pachyonychia Congenita Ophoryogenes

  • 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 Ophoryogenes

  • 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 Ophoryogenes

  • 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 (scalp, eyebrows, eyelashes), peg-shaped teeth, full lips and sebaceous hyperplasia. Also note the normal secondary hair in adults.

  • 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 (scalp, eyebrows, eyelashes), peg-shaped teeth, full lips and sebaceous hyperplasia. Also note the normal secondary hair in adults.

  • 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 (scalp, eyebrows, eyelashes), peg-shaped teeth, full lips and sebaceous hyperplasia. Also note the normal secondary hair in adults.

  • 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 (scalp, eyebrows, eyelashes), peg-shaped teeth, full lips and sebaceous hyperplasia. Also note the normal secondary hair in adults.

  • Congenital defect of the skin

  • Absence of skin and subcutaneous tissue of the cranium


Focal dermal hypoplasia
Focal Dermal Hypoplasia (scalp, eyebrows, eyelashes), peg-shaped teeth, full lips and sebaceous hyperplasia. Also note the normal secondary hair in adults.

  • 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 (scalp, eyebrows, eyelashes), peg-shaped teeth, full lips and sebaceous hyperplasia. Also note the normal secondary hair in adults.

  • Dwarfism

  • Retinal atrophy

  • Deafness

  • Photodermatitis

  • Telangiectasia

  • Microcephaly, sunken eyes, and characteristic facial appearance


Werner s syndrome
Werner’s Syndrome (scalp, eyebrows, eyelashes), peg-shaped teeth, full lips and sebaceous hyperplasia. Also note the normal secondary hair in adults.

  • 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 (scalp, eyebrows, eyelashes), peg-shaped teeth, full lips and sebaceous hyperplasia. Also note the normal secondary hair in adults.

  • AKA Hutchinson-Gilford Syndrome

  • Dwarfism

  • Alopecia

  • Generalized atrophy of the skin

  • Enlarge head

  • Fatal by second decade


Congenital auricular fistula
Congenital Auricular Fistula (scalp, eyebrows, eyelashes), peg-shaped teeth, full lips and sebaceous hyperplasia. Also note the normal secondary hair in adults.

  • 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 (scalp, eyebrows, eyelashes), peg-shaped teeth, full lips and sebaceous hyperplasia. Also note the normal secondary hair in adults.

  • Developmental anomaly

  • Exude sebum like material

  • AD with incomplete penetrance


Popliteal pterygium syndrome
Popliteal Pterygium Syndrome (scalp, eyebrows, eyelashes), peg-shaped teeth, full lips and sebaceous hyperplasia. Also note the normal secondary hair in adults.

  • 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


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