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3.
Clin Exp Dermatol ; 27(8): 654-6, 2002 Nov.
Article in English | MEDLINE | ID: mdl-12472539

ABSTRACT

We report a family with hereditary hypotrichosis simplex of the scalp, a rare disorder that was first described in 1974. In our family, four out of 10 siblings were affected, including three females and one male. Examination showed thinning of the scalp hair and sparse body hair. Eyebrows, eyelashes, pubic and axillary hair were normal. Skin, nails and teeth were also normal. Hair shaft examination did not reveal any structural abnormalities. Normal follicular units, hair shafts within follicles, eccrine glands and a lack of inflammation were seen on histopathology. The primary pathology underlying this genodermatosis is unclear, but the anagen phase of the hair cycle is clearly compromised.


Subject(s)
Hypotrichosis/genetics , Adolescent , Adult , Female , Humans , Male , Pedigree
4.
Clin Exp Dermatol ; 27(8): 673-6, 2002 Nov.
Article in English | MEDLINE | ID: mdl-12472544

ABSTRACT

We report a large consanguineous Saudi-Arabian pedigree containing 11 individuals with the autosomal recessive genodermatosis, Kindler syndrome. Three affected cases died in infancy but the remaining eight had signs of photosensitivity, generalized poikiloderma, webbed fingers, loss of dermatoglyphics and nail dystrophy. The majority also had oral involvement with bleeding gums. Additional features seen in some cases included pseudoainhum of the toes, sclerotic bands on the wrists and hand deformities. The aetiology of Kindler syndrome is not yet known, but the underlying defect leads to both cutaneous and oral inflammation, along with photosensitivity and scarring.


Subject(s)
Rothmund-Thomson Syndrome/genetics , Adult , Consanguinity , Female , Humans , Male , Pedigree , Rothmund-Thomson Syndrome/pathology , Saudi Arabia , Syndrome
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