title: A female patient with the Rothmund-Thomson syndrome associated with anhidrosis and severe infections of the respiratory tract.
abstract: The Rothmund-Thomson syndrome is a rare syndrome which is believed to be inherited in an autosomal pattern. Poikiloderma of the face and extremities is a characteristic feature. Besides this, less common aspects have been reported like alopecia, cataracts, short stature, musculoskeletal/bone defects or small hands, hypogonadism, abnormal teeth, dysplastic nails, anhidrosis and a high incidence of cutaneous and non-cutaneous malignancies. We present a patient with the Rothmund-Thomson syndrome together with anhidrosis and multiple infections of the upper and lower respiratory tract. Investigation of immunological function revealed a low total number of T lymphocytes with a slightly depressed reactivity. Immunoglobulins were markedly increased.
authors.affiliation: Department of Dermatology, University Hospital Leiden, The Netherlands.
authors.forename: D G
authors.initials: DG
authors.lastname: Snels
authors.forename: J N
authors.initials: JN
authors.lastname: Bavinck
authors.forename: H
authors.initials: H
authors.lastname: Muller
authors.forename: B J
authors.initials: BJ
authors.lastname: Vermeer
mesh_terms: D002648:Child; D004485:Eczema / Q000150:complications / Q000473:pathology; D005260:Female; D006801:Humans; D007007:Hypohidrosis / Q000150:complications / Q000473:pathology*; D012141:Respiratory Tract Infections / Q000150:complications / Q000473:pathology*; D011038:Rothmund-Thomson Syndrome / Q000150:complications / Q000473:pathology*; D012867:Skin / Q000473:pathology / Q000648:ultrastructure