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.



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Narrow down the case reports



Total: 88 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
42
(4.0%)		 6476720
 [Cutis marmorata telangiectatica congenita. Apropos of a case with hemicorporeal topography. Ultrastructural study].
Houdee G, Beylot C, Doutre MS, Bioulac P, Bouchet H.
Ann Dermatol Venereol. 1984;111(4):359-68.
Hemangioma
Follow-Up Studies Homo sapiens Infant, Newborn Male Skin Syndrome Telangiectasis
42
(4.0%)		 3740886
 Cutis marmorata telangiectatica congenita with multiple congenital anomalies.
Del Giudice SM, Nydorf ED.
Arch Dermatol. 1986;122(9):1060-1.
Urethrovaginal fistula
Anus, Imperforate Females Homo sapiens Infant, Newborn Telangiectasis
42
(4.0%)		 3343635
 Congenital glaucoma associated with cutis marmorata telangiectatica congenita: two case reports.
Sato SE, Herschler J, Lynch PJ, Hodes BL, Fryczkowski AW, Schlosser HD.
J Pediatr Ophthalmol Strabismus. 1988;25(1):13-7.
Glaucoma
Child, Preschool Facial Dermatoses Facial Neoplasms Females Glaucoma Gonioscopy Hemangioma Homo sapiens Infant, Newborn Telangiectasis
42
(4.0%)		 2612041
 Cutis marmorata telangiectatica congenita with soft-tissue herniations on the lower legs.
Nicholls DS, Harper JI.
Clin Exp Dermatol. 1989;14(5):369-70.
Erythema
Females Hernia Homo sapiens Infant, Newborn Leg Pathological Dilatation Skin Telangiectasis Veins
42
(4.0%)		 2377352
 Cutis marmorata telangiectatica congenita and glaucoma.
Miranda I, Alonso MJ, Jimenez M, Tomas-Barberan S, Ferro M, Ruiz R.
Ophthalmic Paediatr Genet. 1990;11(2):129-32.
Glaucoma
Glaucoma Homo sapiens Infant Male Telangiectasis Trabeculectomy
42
(4.0%)		 2205894
 Cutis marmorata telangiectatica congenita associated with bilateral congenital retinal detachment.
Shields JA, Shields CL, Koller HP, Federman JL, Koblenzer P, Barbera LS.
Retina. 1990;10(2):135-9.
Retinal detachment
Corneal Diseases Eye Hemorrhage Females Glaucoma, Neovascular Homo sapiens Infant, Newborn Retinal Detachment Skin Telangiectasis Ultrasonography
42
(4.0%)		 1428876
 [Painful cutis marmorata teleangiectatica congenita].
Lentner A, Bohler U, Wittkopf-Baumann C, Younossi H, Grussendorf-Conen EI.
Hautarzt. 1992;43(10):657-60.
Cutis marmorata
Adult Differential Diagnosis Females Homo sapiens Hyperesthesia Skin Telangiectasis
42
(4.0%)		 508599
 Cutis mamorata telangiectatica congenita in two sisters.
Andreev VC, Pramatarov K.
Br J Dermatol. 1979;101(3):345-50.
Hypertension
Adult Females Homo sapiens Syndrome Telangiectasis
        

Phenotype(s) retrieved from Orphanet

    Total: 32

HPO ID Term Frequency
HP:0000951 Abnormality of the skin Very frequent (99-80%)
HP:0000965 Cutis marmorata Very frequent (99-80%)
HP:0001250 Seizures Very frequent (99-80%)
HP:0001933 Subcutaneous hemorrhage Very frequent (99-80%)
HP:0002814 Abnormality of the lower limb Very frequent (99-80%)
HP:0002817 Abnormality of the upper limb Very frequent (99-80%)
HP:0006385 Short lower limbs Very frequent (99-80%)
HP:0100026 Arteriovenous malformation Very frequent (99-80%)
HP:0200041 Skin erosion Very frequent (99-80%)
HP:0000541 Retinal detachment Frequent (79-30%)
HP:0000555 Leukocoria Frequent (79-30%)
HP:0008065 Aplasia/Hypoplasia of the skin Frequent (79-30%)
HP:0100585 Telangiectasia of the skin Frequent (79-30%)
HP:0000003 Multicystic kidney dysplasia Occasional (29-5%)
HP:0000202 Oral cleft Occasional (29-5%)
HP:0000347 Micrognathia Occasional (29-5%)
HP:0000821 Hypothyroidism Occasional (29-5%)
HP:0000979 Purpura Occasional (29-5%)
HP:0001511 Intrauterine growth retardation Occasional (29-5%)
HP:0001541 Ascites Occasional (29-5%)
HP:0001643 Patent ductus arteriosus Occasional (29-5%)
HP:0001770 Toe syndactyly Occasional (29-5%)
HP:0002650 Scoliosis Occasional (29-5%)
HP:0004349 Reduced bone mineral density Occasional (29-5%)
HP:0005306 Capillary hemangioma Occasional (29-5%)
HP:0006101 Finger syndactyly Occasional (29-5%)
HP:0007565 Multiple cafe-au-lait spots Occasional (29-5%)
HP:0100543 Cognitive impairment Occasional (29-5%)
HP:0100545 Arterial stenosis Occasional (29-5%)
HP:0100555 Asymmetric growth Occasional (29-5%)
HP:0100627 Displacement of the urethral meatus Occasional (29-5%)
HP:0100814 Blue nevus Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 52

HPO ID Term # of case reports
HP:0000256 Macrocephaly 19
HP:0000965 Cutis marmorata 11
HP:0001009 Telangiectasia 8
HP:0001052 Nevus flammeus 3
HP:0001250 Seizures 3
HP:0001548 Overgrowth 3
HP:0025104 Capillary malformation 3
HP:0000047 Hypospadias 2
HP:0000238 Hydrocephalus 2
HP:0000501 Glaucoma 2
HP:0000541 Retinal detachment 2
HP:0000822 Hypertension 2
HP:0001159 Syndactyly 2
HP:0001528 Hemihypertrophy 2
HP:0001770 Toe syndactyly 2
HP:0100556 Hemiatrophy 2
HP:0000076 Vesicoureteral reflux 1
HP:0000126 Hydronephrosis 1
HP:0000347 Micrognathia 1
HP:0000518 Cataract 1
HP:0000821 Hypothyroidism 1
HP:0000938 Osteopenia 1
HP:0001025 Urticaria 1
HP:0001048 Cavernous hemangioma 1
HP:0001269 Hemiparesis 1
HP:0001382 Joint hypermobility 1
HP:0001388 Joint laxity 1
HP:0001511 Intrauterine growth retardation 1
HP:0001643 Patent ductus arteriosus 1
HP:0001762 Talipes equinovarus 1
HP:0001791 Fetal ascites 1
HP:0002007 Frontal bossing 1
HP:0002093 Respiratory insufficiency 1
HP:0002104 Apnea 1
HP:0002240 Hepatomegaly 1
HP:0002650 Scoliosis 1
HP:0003764 Nevus 1
HP:0006521 Pulmonary lymphangiectasia 1
HP:0007917 Tractional retinal detachment 1
HP:0008094 Widely spaced toes 1
HP:0008404 Nail dystrophy 1
HP:0010783 Erythema 1
HP:0011510 Drusen 1
HP:0011590 Double aortic arch 1
HP:0012151 Hemothorax 1
HP:0012733 Macule 1
HP:0012855 Scrotal hyperpigmentation 1
HP:0025105 Nevus anemicus 1
HP:0031273 Shock 1
HP:0100259 Postaxial polydactyly 1
HP:0100555 Asymmetric growth 1
HP:0100559 Lower limb asymmetry 1


Causative gene(s) retrieved from Orphanet

    Total: 1

Gene Symbol Gene Name Entrez Gene ID
ARL6IP6 ADP ribosylation factor like GTPase 6 interacting protein 6 151188