Rothmund-thomson syndrome-a single case report with systemic muscular atrophy, multiple organ fibrosis and pulmonary cachexia

Rheumatology (United Kingdom)

Volumn 51, Issue 11, 2012, Pages 2109-2111

  Meier, Matthias ^a   Schwarz, Anke ^a  

^a HANNOVER MEDICAL SCHOOL   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ANTIBIOTIC AGENT;

ACHILLES TENDON; ADULT; ANTIBIOTIC THERAPY; BODY MASS; CACHEXIA; CASE REPORT; CHRONIC KIDNEY FAILURE; CLIMBING; CLINODACTYLY; COMMUNITY ACQUIRED PNEUMONIA; COMPUTER ASSISTED TOMOGRAPHY; ENCHONDROMA; FEMALE; GASTROENTEROSTOMY; GENERAL CONDITION DETERIORATION; HEMODIALYSIS; HUMAN; LETTER; MULTIPLE ORGAN FAILURE; MUSCLE ATROPHY; PRIORITY JOURNAL; PULMONARY CACHEXIA; ROTHMUND THOMSON SYNDROME;

ADULT; CACHEXIA; FATAL OUTCOME; FEMALE; HUMANS; MULTIPLE ORGAN FAILURE; MUSCULAR ATROPHY; PHENOTYPE; PULMONARY FIBROSIS; ROTHMUND-THOMSON SYNDROME; SCLEROSIS; SKIN ABNORMALITIES; SKIN DISEASES, GENETIC;

EID: 84867768380     PISSN: 14620324     EISSN: 14620332     Source Type: Journal    
DOI: 10.1093/rheumatology/kes143     Document Type: Letter

References (5)

1. Vennos EM, James WD. Rothmund-Thomson syndrome. Dermatol Clin 1995; 13: 143-50.
2. Wang LL, Levy ML, Lewis RA et al. Clinical manifestations in a cohort of 41 Rothmund-Thomson syndrome patients. Am J Med Genet 2001; 102: 11-7.
3. Lessem J, Bjerre I, Forslund M. Epilepsy and myopathy in a patient with Rothmund-Thomson's syndrome. Acta Med Scand 1980; 207: 237-9.
4. Blaheta HJ, Dummer W, Machetanz G, Drosner M. [Congenital poikiloderma of the verrucous type in Thomson syndrome with associated myopathy]. Der Hautarzt 1994; 45: 499-503.
5. Khumalo NP, Pillay K, Beighton P et al. Poikiloderma, tendon contracture and pulmonary fibrosis: a new autosomal dominant syndrome? Br J Dermatol 2006; 155: 1057-61.