Rothmund-Thomson syndrome

Roth·mund syn·drome

(rot'mūnd),

atrophy, pigmentation, and telangiectasia of the skin, usually with juvenile cataract, saddle nose, congenital bone defects, disturbance of hair growth, hypogonadism; autosomal recessive inheritance.

Synonym(s): poikiloderma atrophicans and cataract, poikiloderma congenitale, Rothmund-Thomson syndrome

Rothmund-Thomson syndrome

(rŏth′mŏnd″tŏm′sĭn),

RTS

A rare autosomal recessive disease in which helicase is formed abnormally. Children affected by RTS have poikiloderma; deformities of bone, nails, and hair; premature aging; and a predisposition to cancer.

Rothmund,

August von, German physician, 1830-1906.

Rothmund syndrome - atrophy, pigmentation, and telangiectasia of the skin, usually with juvenile cataract, saddle nose, congenital bone defects, disturbance of hair growth and hypogonadism. Synonym(s): poikiloderma atrophicans and cataract; poikiloderma congenitale; Rothmund-Thomson syndrome

Rothmund-Thomson syndrome - Synonym(s): Rothmund syndrome

---

Thomson,

Matthew Sidney, English dermatologist, 1894-1969.

Rothmund-Thomson syndrome - Synonym(s): Rothmund syndrome