A 5-year Journey with Cutis Laxa in an Indian Child: The De Barsy Syndrome Revisited.

De Barsy syndrome (DBS), synonymously known as autosomal recessive cutis laxa type III, is an extremely rare condition clinically characterized by cutis laxa, a progeroid appearance, and ophthalmologic abnormalities. We present here an account of 5-year follow-up since the birth of an Indian boy with DBS, who had a few rare and unusual manifestations. In addition, our case probably represents the first reported case of DBS from India.

Goltz syndrome: a newborn with ectrodactyly and skin lesions.

Goltz syndrome or Focal Dermal Hypoplasia is a rare multisystem disorder, involving all the three germ cell layers. The disease is thought to be inherited in X-linked dominant fashion with heterogeneous mutations of the PORCN gene at Xp11.23 locus. Majority of the cases are sporadic, mainly due to postzygotic somatic mutations. The clinical spectrum includes characteristic cutaneous manifestations, multiple skeletal anomalies, and involvement of the eyes, hair, nails, kidneys, and so on. Considerable variability is noted in the clinical expression of the disease probably due to genomic mosaicism. Around 300 cases of Goltz syndrome have been reported in the literature. Here, we report such a case with characteristic skin lesions, multiple bony defects, distinctive facial features, coloboma of iris, and bilateral hydronephrosis. The diagnosis was evident immediately after birth due to the characteristic clinical picture of the baby.

Newborn Aides: an innovative approach in sick newborn care at a district-level special care unit.

A Sick Newborn Care Unit (SNCU), established in a district hospital in India, substantially reduced the neonatal mortality rate in the district; it, however, suffered from a dearth of trained nurses. Local girls with 10-12 years of school education underwent structured and hands-on training for six months, followed by a six-month internship at the SNCU and were assigned to it as stipendiary 'Newborn Aides'. Based on the results of formal examinations, internal on-the-job assessment and interview of doctors, nurses, and parents and their technical skills and motivation were rated very high. Although the incremental cost of training is small, the cost of sustaining them, i.e. stipend and replacing attrition, needs to be addressed. Trained Newborn Aides may substantially alleviate human-resource constraint for SNCUs and Sick Newborn Stabilization units in smaller peripheral hospitals for care of sick newborns at an affordable cost.