Nachiappa Ganesh Rajesh

Spontaneous regression of a congenital melanocytic nevus

Congenital melanocytic nevus (CMN) may rarely regress which may also be associated with a halo or vitiligo. We describe a 10-year-old girl who presented with CMN on the left leg since birth, which recently started to regress spontaneously with associated depigmentation in the lesion and at a distant site. Dermoscopy performed at different sites of the regressing lesion demonstrated loss of epidermal pigments first followed by loss of dermal pigments. Histopathology and Masson-Fontana stain demonstrated lymphocytic infiltration and loss of pigment production in the regressing area. Immunohistochemistry staining (S100 and HMB-45), however, showed that nevus cells were present in the regressing areas.

H syndrome with a novel homozygous R134C mutation in SLC29A3 gene

The H syndrome is a rare autosomal recessive genodermatosis caused by mutations in the nucleoside transporter hENT3. It is characterized by progressive skin sclerosis, hyperpigmentation, and hypertrichosis, along with multiple systemic manifestations including insulin-dependent diabetes mellitus. Here, we report a rare case of H syndrome with typical clinical features and facial dysmorphism whose genetic analysis revealed a novel homozygous missense mutation in SLC29A3 gene, encoding hENT3.

Sub-chronic toxicological evaluation of cleistanthin A and cleistanthin B from the leaves of Cleistanthus collinus (Roxb.)

Objective To investigate the toxicological effects of cleistanthin A and cleistanthin B using sub-chronic toxicity testing in rodents. Method Cleistanthins A and B were isolated from the leaves of Cleistanthus collinus. Both the compounds were administered orally for 90 days at the concentration of 12.5, 25 and 50 mg/kg, and the effects on blood pressure, biochemical parameters and histology were assessed. The dose for sub-chronic toxicology was determined by fixed dose method according to OECD guidelines. Result Sub-chronic toxicity study of cleistanthins A and B spanning over 90 days at the dose levels of 12.5, 25 and 50 mg/kg (once daily, per oral) revealed a significant dose dependant toxic effect in lungs. The compounds did not have any effect on the growth of the rats. The food and water intake of the animals were also not affected by both cleistanthins A and B. Both the compounds did not have any significant effect on liver and renal markers. The histopathological analysis of both cleistanthins A and B showed dose dependent morphological changes in the brain, heart, lung, liver and kidney. When compared to cleistanthin A, cleistanthin B had more toxic effect in Wistar rats. Both the compounds have produced a dose dependent increase of corpora amylacea in brain and induced acute tubular necrosis in kidneys. In addition, cleistanthin B caused spotty necrosis of liver in higher doses. Conclusion The present study concludes that both cleistanthin A and cleistanthin B exert severe toxic effects on lungs, brain, liver, heart and kidneys. They do not cause any significant pathological change in the reproductive system; neither do they induce neurodegenerative changes in brain. When compared to cleistanthin A, cleistanthin B is more toxic in rats.

Infantile Nephrotic Syndrome with Microcephaly and Global Developmental Delay: The Galloway Mowat Syndrome

The authors present the first case of Galloway Mowat Syndrome (GMS), a rare disorder comprising of nephrotic syndrome in association with microcephaly, from India. An 11-mo-old girl with microcephaly, developmental delay and nystagmus presented with nephrotic syndrome. The perinatal and neonatal periods had been uneventful. The renal biopsy revealed mesangial proliferation with IgM deposition, while MRI of the brain showed hypomyelination. Molecular diagnosis by polymerase chain reaction (PCR) did not reveal any pathogenic sequences in the exons and the flanking intronic regions of the NPHS2 gene and LAMB2 gene. The infant responded to prednisolone. GMS must be suspected whenever microcephaly and global developmental delay occurs in association with nephrotic syndrome, as this is important for prognostication and genetic counseling. The genetics of GMS remains an enigma and further research is required to delineate the pathogenesis of this disorder.

Epidermolysis bullosa pruriginosa showing good response to low‐dose thalidomide – a report of two cases

Epidermolysis bullosa pruriginosa is a rare distinctive variant of dystrophic epidermolysis bullosa characterized by intense pruritus, lichenified plaques in linear distribution, and anonychia. It is a difficult condition to treat and causes a great deal of distress. The present authors report two cases showing good response to low‐dose thalidomide, with clinical and symptomatic improvement. The exact mechanism of action is not yet clear.

Kartagener syndrome associated with mesangioproliferative glomerulonephritis

Abstract An 11-year-old girl with clinical features of Kartagener syndrome presented with signs of acute glomerulonephritis. Blood urea and creatinine were mildly elevated and anti-streptolysin O and C3 levels were normal. Renal biopsy demonstrated mesangial proliferation and direct immunofluorescence showed IgM and C3 deposits. This appears to be the first report of Kartagener syndrome in association with mesangioproliferative glomerulonephritis. The literature is reviewed and the possible mechanisms for this association are discussed.

Acquired zinc deficiency in an adult female

Acrodermatitis enteropathica is an autosomal recessive inherited disorder of zinc absorption. Acquired cases are reported occasionally in patients with eating disorders or Crohns disease. We report a 24-year-old housewife with acquired isolated severe zinc deficiency with no other comorbidities to highlight the rare occurrence of isolated nutritional zinc deficiency in an otherwise normal patient.

Congenital triangular alopecia: Is it always confined to fronto-temporal region.

region? Indian J Dermatol Venereol Leprol 2016;82:112. Received: May, 2014. Accepted: January, 2015. Source of Support: Nil. Confl ict of Interest: None declared. Sir, Congenital triangular alopecia (CTA) is widely known as temporal triangular alopecia and presents as non-scarring, non-inflammatory triangular, oval or lancet shaped alopecia confined to the fronto-temporal scalp.[1] It is also known as Brauer nevus and was first described by Sabouraud in 1905.[2] We report congenital triangular alopecia over the left temporo-parieto-vertex region of scalp.

Lipoblastoma presenting as a rapidly growing paravertebral mass and masquerading as myxoid liposarcoma on fine needle aspiration cytology.

Lipoblastoma is a peculiar variant of lipoma occurring almost exclusively during infancy and early childhood. It is found most commonly in the upper and lower extremities; less common sites are head and neck, trunk, mediastinum, and retroperitoneum. It has a greater predilection for boys and commonly presents as a slowly growing soft‐tissue mass. We present here the case of a five‐ year old female child with a lipoblastoma presenting as a paravertebral mass in the right lower back which progressed rapidly in the previous six months causing diagnostic difficulty on fine needle aspiration cytology. Diagn. Cytopathol. 2016;44:426–429.

Primary cutaneous plasmablastic lymphoma presenting as perineal ulcero-proliferative growth in a human immunodeficiency virus-seropositive patient.

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