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Cutis marmorata telangiectatica congenita is characterized by reticular erythema that is either generalized over the entire body or localized to a specific area or. Cutis marmorata telangiectatica congenita (CMTC) is a rare condition that causes a marbled pattern on the skin. Learn the symptoms, other. Cutis marmorata telangiectatica congenita. Authoritative facts about the skin from DermNet New Zealand Trust.

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Patients should be referred tealngiectatica a neurologist only if neurological symptoms or suggestions of a more complex syndrome are present. Privacy Policy Terms of Use.

By using this site, you agree to the Terms of Use and Privacy Policy. Skin changes may range from fine diffuse capillary anomalies without atrophy to atrophic or ulcerated larger purple reticulated bands. When the skin is warmed the condition disappears.

Additional information Further information on this disease Classification s 3 Gene s 0 Clinical signs and symptoms Other website s 4. This condition is found most often in infants but may also affect adults. However, we encountered 2 patients with limb hypoplasia a difference in circumference in both cases who also had cutaneous atrophy. It is mostly cosmetic, and while it is present at birth, it fades considerably over a child’s first year.

This anomaly has been described in the literature by a number of authors. A skin biopsy specimen was obtained in only 1 case but showed no abnormalities. It forms as a result of abnormal blood vessels a. Orthopaedic referral is advised for limb length discrepancies over 2 cm for epiphysiodesis fusion of bone growth plate and surgical consideration.

RareConnect offers a safe patient-hosted online community for patients and caregivers affected by this rare disease. The length of her lower limbs, measured from the anterior superior ileac spine to the medial malleolus, did not differ.


Cutis marmorata telangiectatica congenita or CMTC is a rare congenital vascular disorder that usually manifests in affecting the blood vessels of the skin. The lower extremities often show atrophy and seldom show hypertrophy resulting in limb circumference discrepancy.

In the last case, the mother and her 2 daughters would show slightly different phenotypes of such a syndrome. The reticulated mottling frequently appears more prominent in a cold environment physiologic cutis marmoratabut tends not to disappear with warming.

Dermatologic examination revealed a reticular erythematous patch extending from the right inguinal area to the midsection of her right shin Figure 1. The symptoms and findings associated with the disorder vary in range and severity from case to case. These are not always regarded as associated anomalies, but are included in the specific skin findings in CMTC.

Both genders seem equally affected. There was no family history of vascular malformations. Most of the congenitally associated anomalies are minor and sometimes questionable. Cutis marmorata telangiectatica congenita and extensive mongolian spots: Devillers ; Flora B.

Create a personal account to register for email alerts with links to free full-text articles. One patient had febrile seizures, psychomotor and mental retardation, corpus callosum agenesis, cerebral atrophy, and dilatated ventricles. Cutis marmorata is a transient skin disorder in which the skin has a bluish red marbling pattern when exposed to cold temperatures.

Gerritsen MJ, et al. Atrophic patches may remain.

Rare Disease Database

It has a marbled bluish to deep-purple appearance. Adams—Oliver syndrome and phakomatosis pigmentovascularis. Hence, the erythema may be worsened by mamorata, physical activity, or crying. The 4 cases that we listed under generalized skin lesions all showed some small areas of unaffected skin. Amitai DB, et teoangiectatica.

No CMTC or other vascular lesions in the area around the eyes were observed in the other 2 cases. For information about clinical trials conducted in Europe, contact: Health care resources for this disease Expert centres 56 Diagnostic tests 1 Patient organisations 6 Orphan drug s 0.


Cutis marmorata telangeictatica congenita and hypospadias: In severe cases, an underlying defect of the bones telangiectaticw the skull may also be present.

One child had psychomotor retardation.

We did not observe any child with glaucoma. Register for email alerts with links to free full-text articles Access PDFs of free articles Manage telangeictatica interests Save searches and receive search alerts.

Other treatment is symptomatic and supportive. Some patients have a few or no histopathologic abnormalities.

Cutis marmorata telangiectatica congenita | DermNet NZ

Diagnosis of cutis marmorata telangiectatica congenita is usually based on the identification of the specific skin appearances by an experienced dermatologist or paediatrician.

It is characterised by fixed patches of mottled skin with a net-like or reticulate blue to pale purple patches livedo mzrmorata. Cutis marmoratatelangeictaticacongenita Van Lohuizen syndrome. Most patients showed a definite improvement of their mottled vascular skin lesions within 2 years.

Other observed anomalies were syndactyly 2 cases ; tendinitis stenosans diagnosed in a patient who had difficulty in extending the middle finger of both hands contenita a dysplastic hip; club feet; maldescended testes; an inguinal hernia; lymphangioma; torticollis 2 cases ; an enlarged kidney; a malrotated bowel; an asymmetrical skull; a telangiectatlca bowing in the lower legs due to the soft tissue radiography showed normal skeletal structures ; febrile convulsions also found in the patient’s brother, who did not have CMTC ; difference in the blood pressure between the arms and legs e causa ignota and coarctatio aortae were excluded by a cardiologist ; scoliosis; and multiple congenital abnormalities, including hypertelorism, low-set ears, abnormal hair, and small marmorzta.

Furthermore, port-wine stains may have more distinct borders and are not associated with underlying atrophy.