Name: PubCaseFinder
License: http://creativecommons.org/licenses/by/2.1/jp/
Keywords: PubCaseFinder,PCF,Rare Disease,Phenotype,Gene,Match,Assist

Cutis marmorata telangiectatica congenita

Cutis marmorata telangiectatica congenita (CMTC) is a congenital localized or generalized vascular anomaly characterized by a persistent cutis marmorata pattern with a marbled bluish to deep purple appearance, spider nevus-like telangiectasia, phlebectasia and, occasionally, ulceration and atrophy of the affected skin.

Hypothyroidism

Deficiency of thyroid hormone.

Total: 1

(per page)

PMID (PMCID)
27930432	FEMALE	Adult
	RETINAL FINDINGS IN A CASE OF PRESUMED CUTIS MARMORATA TELANGIECTATICA CONGENITA.
	Taleb EA, Nagpal MP, Mehrotra NS, Bhatt K. Retin Cases Brief Rep. 2018;12(4):322-325.
	A 41-year-old woman with presumed cutis marmorata telangiectatica congenita who is a known case of hypothyroidism for the last 6 years and has bilateral peripheral retinal vascular abnormalities, peripheral retinal nonperfusion on fluorescein angiography and bilateral optic disk drusen.