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

[rot′moo͡nd tom′son]
Etymology: August von Rothmund, Jr., German physician, 1830-1906; Mathew Sidney Thomson, English dermatologist, 1894-1969
an autosomal-recessive syndrome, occurring principally in females, characterized by the presence of reticulated, atrophic, hyperpigmented, telangiectatic cutaneous plaques and often accompanied by juvenile cataracts; saddle nose; congenital bone defects; disturbances in the growth of hair, nails, and teeth; and hypogonadism. Also called poikiloderma congenitale.

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 ?
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.
Rothmund Thomson Syndrome is a rare autosomal recessive syndrome caused by homozygous or compound heterozygous mutations in (RECQL4) gene.
It was first described in 1868 by a German ophthalmologist (Rothmund1) and later in 1936 by an English dermatologist (Thomson2) who reported another three similar patients but the oponym Rothmund Thomson Syndrome (RTS) was named by Taylor3 in 1957.