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Cutis marmorata telangiectatica congenita (CMTC) is a rare congenital vascular disorder that usually manifests in affecting the blood vessels of the skin. The condition was first recognized and described in 1922 by Cato van Lohuizen, [2] a Dutch pediatrician whose name was later adopted in the other common name used to describe the condition – Van Lohuizen syndrome.
This disorder was recognized as a distinct syndrome in 1997 and named macrocephaly-cutis marmorata telangiectasia congenita or M-CMTC. [12] [13] A new name, macrocephaly-capillary malformation, abbreviated M-CM, was recommended in 2007. [14] This new name was chosen to more accurately describe the skin markings associated with this disorder.
Cutis marmorata (from Latin marmor, "marble") is a benign skin condition which, if persistent, occurs in Cornelia de Lange syndrome, trisomy 13 and trisomy 18 syndromes. [1] When a newborn infant is exposed to low environmental temperatures, an evanescent , lacy, reticulated red and/or blue cutaneous vascular pattern appears over most of the ...
The skin is frequently observed to have a mottled appearance (cutis marmorata telangiectatica congenita). Other congenital anomalies, including cardiovascular malformations , cleft lip and/or palate , abnormal renal system , and neurologic disorders manifesting as seizure disorders and developmental delay are sometimes observed.
Type 1 PWS + epidermal nevus; Type 2 (most common): PWS + dermal melanocytosis +/- nevus anemicus; Type 3: PWS + nevus spilus +/- nevus anemicus; Type 4: PWS + nevus spilus + dermal melanocytosis +/- nevus anemicus; Type 5: CMTC (Cutis marmorata telangiectatica congenita) + dermal melanocytosis; They all can contain capillary malformation.
Aplasia cutis congenita (cutis aplasia, congenital absence of skin, congenital scars) Arteriovenous fistula; Benign neonatal hemangiomatosis; Branchial cyst (branchial cleft cyst) Bronchogenic cyst; Capillary hemangioma (infantile hemangioma, nevus maternus, strawberry hemangioma, strawberry nevus) Cavernous venous malformation
Balamuthia mandrillaris can also cause cutaneous amoebiasis, but can prove fatal if the amoeba enters the bloodstream [7] [8] It is characterized by ulcers. Diagnosis of amebiasis cutis calls for high degree of clinical suspicion. This needs to be backed with demonstration of trophozoites from lesions. Unless an early diagnosis can be made such ...
Beare–Stevenson cutis gyrata syndrome is a rare genetic disorder characterized by craniosynostosis (premature fusion of certain bones of the skull, sometimes resulting in a characteristic 'cloverleaf skull'; further growth of the skull is prevented, and therefore the shape of the head and face is abnormal) and a specific skin abnormality, called cutis gyrata, characterized by a furrowed and ...