Cutis marmorata telangiectatica congenita

A congenital disorder characterized by cutis marmorata (alternating areas of dilated and constricted blood vessels, which gives the skin a red and white marbled appearance), telangiectasis, and VARICOSE VEINS. Skin is most commonly affected on the legs, less commonly on the arms and trunk, and rarely do they involve the face and scalp. It is occasionally associated with skin ulceration or skin atrophy; skin symptoms usually improve with age. Can occur alone or along with a variety of other birth defects, particularly those involving undergrowth or overgrowth of the same arm or leg. Most cases are thought to be sporadic, familial cases appear to be autosomal recessive. OMIM: 219250

Also Known As:

Networked: 9 relevant articles (1 outcomes, 0 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Phacomatosis pigmentovascularis
2.	Stroke (Strokes)
3.	Optic Disk Drusen (Optic Disc Drusen)
4.	Retinal Detachment (Retinal Detachments)
5.	Hypothyroidism

Experts

1.	Eversman, Anna: 1 article (07/2020)
2.	Irfan, Mahwish: 1 article (07/2020)
3.	Knabel, Daniel: 1 article (07/2020)
4.	Tracey, Elisabeth H: 1 article (07/2020)
5.	Makita, Lana Sayuri: 1 article (01/2020)
6.	Medina, Flávio Mac Cord: 1 article (01/2020)
7.	Muniz, Bernardo Carvalho: 1 article (01/2020)
8.	Bhatt, Kalyani: 1 article (11/2018)
9.	Mehrotra, Navneet S: 1 article (11/2018)
10.	Nagpal, Manish P: 1 article (11/2018)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Cutis marmorata telangiectatica congenita:

1.	Retinaldehyde (Retinal)IBA 11/01/2022 - "Ocular Melanocytosis and Peripheral Retinal Avascularity in a Case of Cutis Marmorata Telangiectatica Congenita." 01/01/2020 - "We describe ophthalmologic alterations found in three patients with cutis marmorata telangiectatica congenita highlighting the rare retinal manifestations." 11/01/2018 - "RETINAL FINDINGS IN A CASE OF PRESUMED CUTIS MARMORATA TELANGIECTATICA CONGENITA." 11/01/2018 - "Presumed cutis marmorata telangiectatica congenita is a rare cutaneous vascular disorder that can manifest with nonprogressive retinal vascular abnormality and optic disk drusen." 07/01/2013 - "This case demonstrates novel findings of bilateral peripheral retinal vascular abnormalities and retinal nonperfusion on fluorescein angiography without retinal detachment that have not previously been described in cutis marmorata telangiectatica congenita. "
2.	Fluorescein (Funduscein)FDA LinkGeneric 11/01/2018 - "To correlate the clinical picture and fundus fluorescein angiography findings in case of presumed cutis marmorata telangiectatica congenita. " 07/01/2013 - "Fluorescein angiogram findings in a case of cutis marmorata telangiectatica congenita." 07/01/2013 - "This case demonstrates novel findings of bilateral peripheral retinal vascular abnormalities and retinal nonperfusion on fluorescein angiography without retinal detachment that have not previously been described in cutis marmorata telangiectatica congenita. " 11/01/2018 - "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. "
3.	factor V LeidenIBA 04/01/1998 - "Strokes, cutis marmorata telangiectatica congenita, and factor V Leiden."
4.	1- cyclohexyl- 3- (2- (4- morpholinyl)ethyl)carbodiimideIBA 02/01/1997 - "Cutis marmorata telangiectatica congenita (CMCT) is a rare cutaneous vascular anomaly. "

Therapies and Procedures

1.	Laser Therapy (Surgery, Laser) 02/27/2013 - "But interestingly, the cutis marmorata telangiectatica congenita on the patient's back has improved without laser therapy.In" 07/03/2020 - "Cutis marmorata telangiectatica congenita successfully treated with intense pulsed light and pulse dyed laser therapy: a case report." 02/27/2013 - "The cutis marmorata telangiectatica congenita on the baby's back, buttocks, and arms has faded somewhat without laser therapy. " 02/27/2013 - "Combined laser therapy improved the phacomatosis pigmentovascularis skin lesions, but was not effective for the cutis marmorata telangiectatica congenita with hemiatrophy. "
2.	Lasers (Laser) 03/01/2001 - "Cutis marmorata telangiectatica congenita: laser doppler fluxmetry evidence for a functional nervous defect."