Biomaterial Database

Epidermal dysplasia and skeletal deformity in congenital poikiloderma (Rothmund-Thomson syndrome). 1987

D Shuttleworth, and R Marks

Department of Medicine (Dermatology), University of Wales College of Medicine, Heath Park, Cardiff, U.K.

Two sisters with congenital poikiloderma (Rothmund-Thomson syndrome) are described. One sister developed numerous keratotic lesions on the skin at an early age; these showed histological, ultrastructural and autoradiographic features of dysplastic change. The second sister had severe skeletal involvement in addition to the cutaneous poikiloderma, but no keratotic lesions. The clinical features of these cases demonstrate the variation in phenotypic expression of this disorder within a single family.

UI	MeSH Term	Description	Entries
D007642	Keratosis	Any horny growth such as a wart or callus.	Keratoderma Blennorrhagicum,Keratoma,Keratosis Blennorrhagica,Blennorrhagica, Keratosis,Blennorrhagicas, Keratosis,Blennorrhagicum, Keratoderma,Blennorrhagicums, Keratoderma,Keratoderma Blennorrhagicums,Keratomas,Keratoses,Keratosis Blennorrhagicas
D008854	Microscopy, Electron	Microscopy using an electron beam, instead of light, to visualize the sample, thereby allowing much greater magnification. The interactions of ELECTRONS with specimens are used to provide information about the fine structure of that specimen. In TRANSMISSION ELECTRON MICROSCOPY the reactions of the electrons that are transmitted through the specimen are imaged. In SCANNING ELECTRON MICROSCOPY an electron beam falls at a non-normal angle on the specimen and the image is derived from the reactions occurring above the plane of the specimen.	Electron Microscopy
D011038	Rothmund-Thomson Syndrome	An autosomal recessive syndrome occurring principally in females, characterized by the presence of reticulated, atrophic, hyperpigmented, telangiectatic cutaneous plaques, often accompanied by juvenile cataracts, saddle nose, congenital bone defects, disturbances in the growth of HAIR; NAILS; and TEETH; and HYPOGONADISM.	Poikiloderma Congenitale,Congenital Poikiloderma,Poikiloderma Atrophicans and Cataract,Poikiloderma Congenitale of Rothmund-Thomson,Poikiloderma of Rothmund-Thomson,Congenitale, Poikiloderma,Congenitales, Poikiloderma,Poikiloderma Congenitales,Poikiloderma of Rothmund Thomson,Rothmund Thomson Syndrome,Rothmund-Thomson Poikiloderma,Rothmund-Thomson Poikilodermas,Syndrome, Rothmund-Thomson
D001847	Bone Diseases	Diseases of BONES.	Bone Disease,Disease, Bone,Diseases, Bone
D002648	Child	A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL.	Children
D002675	Child, Preschool	A child between the ages of 2 and 5.	Children, Preschool,Preschool Child,Preschool Children
D005260	Female		Females
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D012867	Skin	The outer covering of the body that protects it from the environment. It is composed of the DERMIS and the EPIDERMIS.
D012871	Skin Diseases	Diseases involving the DERMIS or EPIDERMIS.	Dermatoses,Skin and Subcutaneous Tissue Disorders,Dermatosis,Skin Disease