CMTC: Cutis marmorata telangiectatica congenita PPV: Phacomatosis pigmentovascularis INTRODUCTION The coexistence of cutis marmorata telangiectatica congenita (CMTC) with Mongolian spots has been reported as a distinct type of phacomatosis pigmentovascularis (PPV), namely PPV type V or phacomatosis cesiomarmorata. PPV type V is a rare congenital vascular anomaly, with only 7 previous cases ment...

1. Snape KM, Ruddy D, Zenker M et al. The spectra of clinical phenotypes in aplasia cutis congenita and terminal transverse limb defects. Am J Med Genet A 2009: 149A (8): 1860–1881. 2. Hassed SJ, Wiley GB, Wang S et al. RBPJ mutations identified in two families affected by Adams-Oliver syndrome. Am J Hum Genet 2012: 91 (2): 391–395. 3. Southgate L, Sukalo M, Karountzos AS et al. Haploinsufficie...

INTRODUCTION Macrocephaly-capillary malformation syndrome is characterized by cutaneous vascular lesions, including cutis marmorata telangiectatica and hemangiomas, associated with congenital anomalies, including macrocephaly, macrosomia, asymmetry and mental retardation. In addition to these cardinal signs, several other clinical conditions have been reported in people with this condition. How...

We describe a case of generalized cutis laxa (CL) in a 7-year-old female child. At 2 months of age, she was found to have a hoarse voice, and at 3 years, she was much smaller than her peers. Her aging face and short stature caught our attention, and the treatment of the patient was accepted by our hospital. She underwent a thorough examination. X-ray of the wrist bone showed a markedly delayed ...

Cutis laxa (CL) is a rare connective tissue disorder characterized by phenotypic appearance of loose and redundant skin. CL can be congenital or acquired. Congenital forms include autosomal dominant, autosomal recessive and X-linked recessive. Apart from cutaneous abnormalities, CL can present with visceral involvement. In this article, we report a case of CL presenting as recurrent ileus.

Isolated pulmonary artery agenesis (UPAA) diagnosed in adulthood is a rare congenital anomaly. It occurs during embryological development where there fusion failure between sixth aortic arch and truck of affected side. Here we report case an adult patient with isolated unilateral right aplasia.