Publications by authors named "Rima Joshi"

Biotinidase deficiency (BD) is a rare autosomal recessive, vitamin-responsive inborn error of metabolism associated with a wide spectrum of dermatological, neurological, auditory, and metabolic abnormalities. This case report reiterates that a high index of suspicion in childhood diseases with periorificial desquamation can lead to timely detection and active intervention in BD.

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Background: In India, leprosy still continues to be one of the major public health problems and demands a continuous awareness for its eradication. The reduction of the load of infection is the cornerstone of leprosy control.

Aims: The aim of the present study was to enumerate the epidemiology of leprosy in the Ahmedabad district of Gujarat.

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Haberland syndrome or Fishman syndrome also known as encephalocraniocutaneous lipomatosis (ECCL) is a rare, congenital neurocutaneous disorder. It is characterized by unilateral involvement of skin, eyes and central nervous system. We report the case of a 28-year-old woman who presented with soft lipomatous swelling over right temporal area with nonscarring alopecia of part of frontal and parietal region.

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