Acrogeria of the Gottron type in a mother and son

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Acrogeria of the Gottron type in a mother and son

European Journal of Dermatology. Vol. 10, Issue 1, January - February 2000:

36-40, Clinical Reports

Summary: We report a familial case of acrogeria in a mother and son, with

characteristic cutaneous involvement and no clinical signs of vascular

Ehlers-Danlos syndrome (former EDS type IV) in spite of some tendency to

bruising. The biochemical and molecular studies did not disclose any

abnormality of collagen type III, which favours the diagnosis of acrogeria.

It appears that recognition of acrogeria as an entity is of clinical

significance since these cases are not associated with systemic involvement,

and specifically with rupture of vessels and internal organs, occasionnally

occurring in EDS.

Author(s): M. Blaszczyk, A. Depaepe, L. Nuytinck, M. Glinska-Ferenz, S.

Jablonska Keywords: acrogeria Gottron, Ehlers Danlos syndrome Type IV,

COL3A1 gene.

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http://www.hgmp.mrc.ac.uk/dhmhd-bin/hum-look-up?28

Features Listed For ACROGERIA

McKusick: 201200

* Absent nails/claws

* Acro-osteolysis/acral defects

* Deficient adipose tissue or fat/lipodystrophy

* Excessive skin wrinkling

* Fontanelles, delayed closure/large

* Limited movement of hip

* Muscle atrophy

* Patchy pigment of skin/cafe au lait spots

* Perthe's/dysplastic hip

* Premature ageing

* Prominent vessels of skin

* Stature/length short, proportionate

* Skin atrophy - patchy

* Small/hypoplastic/deepset nails/claws

* Sparse hair/alopecia areata

* Telangiectasia/angiokeratomata of skin

* Thin calvarium

* Thin lower lip

* Thin upper lip

* Thin ribs

* Thin fingers

* Thin skin/generalized skin atrophy

* Thin fingers

* Thin skin/generalized skin atrophy

* Wide metaphysis

* Wormian bones

http://matweb.hcuge.ch/Development_genetic_diseases/Developmental_genetic_di

seases/Acrogeria.htm

(picture of hands and feet)

http://www.whonamedit.com/synd.cfm/357.html

Gottron's syndrome

Synonyms:

Acrogeria (Gottron), familial acrogeria, acral disturbance of connective

tissue with atrophy of cutis and subcutis.

Associated persons:

Heinrich Adolf Gottron

Description:

A familial form of progeria in which the premature aging of the skin and

growth retardation are restricted to the hands and feet. Bibliography:

* H. A. Gottron:

Familiäre Akrogerie.

Archiv für Dermatologie und Syphilis, Berlin, 1940-1941, 181: 571-583.

http://yalenewhavenhealth.org/library/healthguide/IllnessConditions/topic.as

p?hwid=nord128

Gottron's Syndrome is an extremely rare inherited disorder characterized by

premature aging (progeria) and unusually fragile, thin skin due to the

absence of fatty tissue directly under the skin (subcutaneous atrophy).

Other findings may include abnormally small hands and feet with thin,

delicate, and fragile skin and unusually prominent veins on the chest; small

stature; and/or abnormally small jaw (micrognathia). Gottron¹s Syndrome is

inherited as an autosomal recessive genetic trait. Approximately 40 cases

have been reported in the medical literature.