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Cutis marmorata telangiectatica congenita

General Information (adopted from Orphanet):

Synonyms, Signs:	CMTC
Number of Symptoms	43
OrphanetNr:	1556
OMIM Id:	219250
ICD-10:	Q82.8
UMLs:	C0345419
MeSH:	C536226
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence:	300 cases [Orphanet]
Inheritance:	Not applicable [Orphanet]
Age of onset:	Neonatal [Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases:

Capillary malformation
-Rare circulatory system disease
-Rare developmental defect during embryogenesis
Skin vascular disease
-Rare skin disease

Symptom Information: Sort by abundance

	Symptom Information	Symptom	Abundance	DB Freq
1	(HPO:0000047)	Hypospadias	Occasional [Orphanet]	250 / 7739
2	(HPO:0000107)	Renal cyst	Occasional [Orphanet]	126 / 7739
3	(HPO:0000202)	Oral cleft	Occasional [Orphanet]	120 / 7739
4	(HPO:0000277)	Abnormality of the mandible	Occasional [Orphanet]	394 / 7739
5	(HPO:0000501)	Glaucoma		180 / 7739
6	(HPO:0000555)	Leukocoria		5 / 7739
7	(HPO:0000541)	Retinal detachment	Frequent [Orphanet]	87 / 7739
8	(HPO:0007906)	Increased intraocular pressure		30 / 7739
9	(HPO:0001250)	Seizures	Very frequent [Orphanet]	1245 / 7739
10	(HPO:0000821)	Hypothyroidism	Occasional [Orphanet]	141 / 7739
11	(HPO:0004349)	Reduced bone mineral density	Occasional [Orphanet]	165 / 7739
12	(HPO:0006385)	Short lower limbs		8 / 7739
13	(HPO:0002979)	Bowing of the legs		28 / 7739
14	(HPO:0006101)	Finger syndactyly	Occasional [Orphanet]	198 / 7739
15	(HPO:0001770)	Toe syndactyly	Occasional [Orphanet]	149 / 7739
16	(HPO:0002650)	Scoliosis	Occasional [Orphanet]	705 / 7739
17	(HPO:0001541)	Ascites	Occasional [Orphanet]	94 / 7739
18	(HPO:0001511)	Intrauterine growth retardation	Occasional [Orphanet]	358 / 7739
19	(HPO:0100555)	Asymmetric growth	Occasional [Orphanet]	25 / 7739
20	(HPO:0100585)	Telangiectasia of the skin	Frequent [Orphanet]	66 / 7739
21	(HPO:0008065)	Aplasia/Hypoplasia of the skin	Frequent [Orphanet]	81 / 7739
22	(HPO:0200042)	Skin ulcer	Very frequent [Orphanet]	138 / 7739
23	(HPO:0001052)	Nevus flammeus	Occasional [Orphanet]	88 / 7739
24	(HPO:0000951)	Abnormality of the skin	Very frequent [Orphanet]	147 / 7739
25	(HPO:0000957)	Cafe-au-lait spot	Occasional [Orphanet]	84 / 7739
26	(HPO:0001933)	Subcutaneous hemorrhage	Occasional [Orphanet]	50 / 7739
27	(HPO:0001009)	Telangiectasia		46 / 7739
28	(HPO:0000995)	Melanocytic nevus	Occasional [Orphanet]	63 / 7739
29	(HPO:0100814)	Blue nevus	Occasional [Orphanet]	3 / 7739
30	(HPO:0000965)	Cutis marmorata	Very frequent [Orphanet]	46 / 7739
31	(HPO:0011276)	Vascular skin abnormality	Very frequent [Orphanet]	24 / 7739
32	(HPO:0001643)	Patent ductus arteriosus	Occasional [Orphanet]	228 / 7739
33	(HPO:0100545)	Arterial stenosis	Occasional [Orphanet]	22 / 7739
34	(HPO:0100026)	Arteriovenous malformation	Very frequent [Orphanet]	38 / 7739
35	(HPO:0000822)	Hypertension		224 / 7739
36	(OMIM)	Congenital retinal detachment		1 / 7739
37	(OMIM)	Tendinitis, stenosing		1 / 7739
38	(HPO:0012758)	Neurodevelopmental delay	Occasional [Orphanet]	949 / 7739
39	(HPO:0000007)	Autosomal recessive inheritance		2538 / 7739
40	(OMIM)	Superficial ulceration		1 / 7739
41	(HPO:0040064)	Abnormality of limbs	Very frequent [Orphanet]	16 / 7739
42	(OMIM)	Phlebectasia		1 / 7739
43	(OMIM)	Thin leg		2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol	Variation	Clinical significance	Reference

Additional Information:

Clinical Description OMIM

Van Lohuizen (1922) described a child with livedo reticularis, telangiectases, and superficial ulceration. Way et al. (1974) found that all reported cases had been sporadic. Andreev and Pramatarov (1979) reported 2 adult sisters with CMTC. Onset was at ... Van Lohuizen (1922) described a child with livedo reticularis, telangiectases, and superficial ulceration. Way et al. (1974) found that all reported cases had been sporadic. Andreev and Pramatarov (1979) reported 2 adult sisters with CMTC. Onset was at birth in both. One developed hypertension at age 16 years. Kurczynski (1982) described the case of a 4-year-old girl whose father and paternal grandmother were said to be identically affected in childhood with improvement by adulthood. Robinow (1985) saw 2 cases of CMTC in seemingly unrelated children of German ancestry living near each other in Ohio. Shields et al. (1990) described a female child in whom CMTC was associated with congenital bilateral total retinal detachments and secondary neovascular glaucoma. Retinal detachments produced bilateral leukocoria simulating retinoblastoma. In a report of a patient with CMTC who also had congenital hypothyroidism, Pehr and Moroz (1993) noted that two-thirds of patients with CMTC have other associated anomalies. Lingier et al. (1992) reported 4 cases with prominent phlebectasia. Dutkowsky et al. (1993) reported leg-length discrepancies, and Kennedy et al. (1992) noted that 2 patients had a short leg that was also thinner. They also reported associated tendinitis stenosans (stenosing tendinitis) and bowing of the lower legs. Toriello et al. (1988) described CMTC in association with Adams-Oliver syndrome (100300). Ben-Amitai et al. (2001) noted that fewer than 300 cases of CMTC had been reported in the world literature. The first association of CMTC with congenital anomalies, namely, Sturge-Weber syndrome (185300) and patent ductus arteriosus (607411), was described by Petrozzi et al. (1970). Associated malformations are thought to occur in approximately 20 to 40% of affected individuals (Picascia and Esterly, 1989; Devillers et al., 1999; Ben-Amitai et al., 2000). Ben-Amitai et al. (2001) reported the occurrence of hypospadias in 4 patients in a series of 52 Israeli males with CMTC (7.69%), which is more than 13 times the rate of isolated hypospadias in this population. Ben-Amitai et al. (2001) suggested that hypospadias may be an associated noncutaneous feature of CMTC. Torrelo et al. (2003) reported 2 patients with an unusual association of extensive cutis marmorata telangiectatica congenita and aberrant mongolian spots. They asserted that this association is best explained as a phenomenon of nonallelic twin spotting and suggested that this condition may be a novel variant form of phacomatosis pigmentovascularis. Hinek et al. (2008) reported a 16-month-old boy with CMTC and generalized vascular abnormalities. At birth, he had multiple bluish-red reticulated bands scattered over the entire skin surface and associated with ulcerations. Dilated veins over the face, scalp, and abdomen were also noted. After 2 to 3 months, the ulcerations had healed well, while the bluish-red reticulated marks and the dilated veins persisted. He had a retinal bleed at age 7 months, and showed developmental delay, seizures, and extensive periventricular white matter calcifications on brain imaging. At 14 months, he was found to have severe pulmonary hypertension with significant tricuspid insufficiency and right heart failure. An open lung biopsy demonstrated marked hyperplasia of medial smooth muscle and small pulmonary arteries. He died at age 20 months from persistent severe hypoxemia. Postmortem examination showed abnormal pulmonary arteries and veins, with irregular thick elastic lamina in the media. Laboratory studies showed increased blood copper levels. Studies of dermal fibroblasts from the patient showed normal tropoelastin (ELN; 130160) synthesis, but decreased deposition of mature elastic fibers that appeared to result from heightened elastolysis. Further studies indicated that the increased elastolysis was due to copper-dependent inactivation of alpha-1-antitrypsin (PI; 107400). The cells also produced more reactive oxygen species. Hinek et al. (2008) suggested that a high level of free copper in this patient was a major triggering factor contributing to the development of the CMTC phenotype.

Symptoms & Signs

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	Disease
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