Rothmund-Thomson syndrome

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Rothmund-Thomson syndrome Classification and external resources
ICD-9	757.33
OMIM	268400
DiseasesDB	29891
eMedicine	derm/379
MeSH	D011038

Rothmund-Thomson Syndrome is a rare autosomal recessive^[1] skin condition originally described by August von Rothmund (1830-1906) in 1868. Matthew Sydney Thomson (1894-1969) published further descriptions in 1936.

There have been several reported cases associated with osteosarcoma. A hereditary genetic basis, mutations in the DNA Helicase RECQL4 gene, has been implicated in the syndrome.^[2]^[3]

[edit] Key features

Abnormal rash termed poikiloderma skin pigmentation
Telangiectasia
Juvenile cataracts
Saddle nose
Congenital bone defects, particularly radial ray anomalies and short stature
Hair growth problems (absent eyelashes, eyebrows and/or hair)
Hypogonadism has not been well documented
Hypodontia
Osteosarcoma^[4]

Rothmund-Thomson syndrome has an autosomal recessive pattern of inheritance.

[edit] References

^ Raza N, Malik QU, Hussain Z (2007). "Rothmund-Thomson syndrome: more than just a cosmetic concern". J Coll Physicians Surg Pak. 17 (7): 423–424. PMID 17686357.
^ Online 'Mendelian Inheritance in Man' (OMIM) 268400
^ Hicks, MJ. et al. Clinicopathologic Features of Osteosarcoma in Patients with Rothmund-Thomson Syndrome. Journal of Clinical Oncology 25(4): 370-375. 2007. PMID 17264332
^ L.L. Wang, et al., 2001, Clinical manifestations in a cohort of 41 Rothmund-Thomson syndrome patients, Am J Med Genet. 102(1):11-7 PMID 11471165

v • d • e Congenital malformations and deformations of integument (Q80-Q84, 757)

Congenital ichthyosis	Epidermolytic hyperkeratosis - Harlequin type ichthyosis - Ichthyosis lamellaris - Ichthyosis vulgaris - Netherton syndrome - X-linked ichthyosis - Zunich-Kaye syndrome

Epidermolysis bullosa	Epidermolysis bullosa simplex - Epidermolysis bullosa dystrophica

Other skin disease	Hereditary lymphedema - Mastocytosis - Meleda disease - Naegeli syndrome - Urticaria pigmentosa - Incontinentia pigmenti - Ectodermal dysplasia - EEM syndrome - Hay-Wells syndrome - Kindler syndrome - Port-wine stain - Cutis laxa - Darier's disease - Pseudoxanthoma elasticum - Keratosis pilaris DNA repair-deficiency disorder: Bloom syndrome - Rothmund-Thomson syndrome - Xeroderma pigmentosum

Nail disease	Leukonychia - Pachyonychia congenita

Malformations of breast	Amastia - Accessory breast - Athelia - Supernumerary nipple - Micromastia

Hair disease	Monilethrix - Sabinas brittle hair syndrome

see also non-congenital (L, 680-709)