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Cutis Marmorata Telangiectatica Congenita

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Cutis Marmorata Telangiectatica Congenita

Al Huwaiji Yousef.
Pediatrics Primary Care, Dhahran, Saudi Arabia.
Cite this article  Copy Citation
Yousef A H. Cutis Marmorata Telangiectatica Congenita. Pediatr Oncall J. 2007;4: 30.

Address for Correspondence
Al Huwaiji Yousef, Dhahran 31311, Po.Box 13357 , Saudi Arabia .
 
Email
ksayma@yahoo.com
 
Introduction
Cutis marmorata telangiectatica congenita, first described by Van Lohuizen in 1922 is a rare but benign congenital vascular malformation that manifests as a reddish-purple skin color with a reticulated mottling appearance (livedo reticularis) and telangiectasia of superficial blood vessels (1). In 50% of the affected patients, skin ulceration, hematrophy and cerebral vascular involvement may occur (2). The following is a description of a newborn baby boy with clinical characteristics of cutis marmorata telangiectatica congenital (CMTC). We believe that this is the first reported case of the rare disease from the Kingdom of Saudi Arabia.
 
Case Report
Our newborn male subject was delivered at full-term by a normal vaginal delivery to a 30 year old gravida 9, para 8 mother following an uneventful pregnancy history, during which there was no exposure to radiation or ingestion or unusual drugs. He is the youngest of eight children, six males and three females; and both parents are first degree relatives. At birth, the entire body surface of our patient showed a bluish gray network pattern of the skin that did not change on exposure to cold or heat or on crying. He also had a cutis aplasia of the scalp measuring 4 x 5cm (patient's father refused to publish photographs, including x-rays). X-ray of his feet showed missing 2nd, 3rd and 4th distal phalanges in both feet. There were no other physical abnormalities. All laboratory investigations were normal including chromosomal studies and he was discharged home a week after delivery in good condition, except for his skin lesion, which has shown no ulceration so far.

The family history revealed that two other siblings have a similar condition as our patient. The first is a 12 year old girl with normal psychomotor development but with a segmental right hand network of bluish-gray skin color which had shown a great deal of improvement over the years. She also has cutis aplasia congenita. The second case is a two year old boy who has got a generalized network of bluish-gray skin color and cutis aplasia congenita. Both lesions have shown progressive improvement with age.
 
Discussion
Our case represents a typical example of cutis marmorata telangiectatica congenita (CMTC), a rare and benign vascular malformation, the etiology of which remains unknown. While some authors have suggested genetic etiology (3), others have postulated environmental factors as being responsible for CMTC. However, many reports have supported a sporadic origin with a low penetrance and considerable intra-familial variability rather than being an autosomal dominant inheritance. In the present report, there are three siblings affected in the same family, thus supporting a genetic predisposition. Although most cases of CMTC are asymptomatic, if it is very severe and persistent, it may be associated with such conditions as Down's Syndrome, Trisomy 18, homocystinuria, Cornelia de Lange syndrome, neonatal lupus erythematosus and congenital hypothyroidism.(4)
 
Acknowledgement
The author acknowledges the useful suggestions of Prof. A.A.O. Laditan.
 
Funding
None
 
Conflict of Interest
None
 
References :
  1. Van Lohuizen CHJ, Über eine seltene angerborene hautanomalie (Cutis marmorata telangiectatica congenita). Acta Derm Venereol 1922;3:202.
  2. Vazquez F. Lopez B Requena I Congenital glaucoma and cuits marmorata telangiectatica: report of the second case. Dermatologica 1988; 177:193.  [CrossRef]  [PubMed]
  3. Andreev VC, Pramatarov K. Cutis marmorata telangiectatica congenita in two sisters. Br J Dermatol 1979; 101:345-50.  [CrossRef]  [PubMed]
  4. Rogers M, St. Barnetson R. Diseases of Skin, Campbell A, McIntosh N; Textbook of Pediatrics; Edinburgh-London; Churchill Livingtsone 1992.

Last Updated : 01 May 2007 Vol 4 Issue 5 Art #18

Cite this article as: :
Yousef A H. Cutis Marmorata Telangiectatica Congenita. Pediatr Oncall J. 2007;4: 30.
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