Rothmund-Thomson syndrome

(redirected from 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.

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
References in periodicals archive ?
De Sanctis Cacchione variant (dSCS) and Rothmund Thomson syndrome (RTS), which were among the differential diagnosis were ruled out upon careful evaluation.
(1,7) It also has been associated with metallic implants, joint prosthesis and in some genetic syndromes, Li Fraumeni syndrome, hereditary retinoblastoma and Rothmund- Thomson syndrome. (1) Genetic mutations in tumor suppressor gene P53 and mutated retinoblastoma gene also found to be an etiological factor for the development of OS.
Rothmund Thomson Syndrome is a rare autosomal recessive syndrome caused by homozygous or compound heterozygous mutations in (RECQL4) gene.