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H Syndrome - A Case Report.

Patrick Yesudian1, K N Sarveswari2, K J Karrunya2

  • 1Consultant Dermatologist, Apollo Hospital, Chennai, Tamil Nadu, India.

Indian Dermatology Online Journal
|June 1, 2019
PubMed
Summary
This summary is machine-generated.

This case report highlights H syndrome, a rare genetic disorder causing skin changes and affecting multiple organs. Early identification by dermatologists is crucial, especially in populations with high consanguinity rates.

Keywords:
H syndromehyperpigmentationhypertrichosisrare casesclerodermatous

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Area of Science:

  • Dermatology
  • Genetics
  • Rare Diseases

Background:

  • H syndrome is a rare, autosomal recessive genodermatosis.
  • It presents with characteristic cutaneous findings and multisystemic involvement.
  • Consanguinity is a significant factor in its prevalence in certain populations.

Observation:

  • A case report details an Indian patient with H syndrome.
  • Clinical manifestations included hyperpigmentation, hypertrichosis, sclerodermatous thickening, hearing loss, and a heart anomaly.
  • This presentation is consistent with previously documented cases of H syndrome.

Findings:

  • The case report contributes to the limited global data on H syndrome, with only about 100 cases reported worldwide.
  • Notably, 10 cases have been identified within the Indian population, suggesting a higher local prevalence.
  • The findings underscore the phenotypic variability and multisystemic nature of H syndrome.

Implications:

  • Increased awareness of H syndrome is vital for timely diagnosis and management.
  • Dermatologists play a key role in identifying patients with this rare genodermatosis.
  • Understanding the genetic and demographic factors, such as consanguinity, can aid in early detection strategies.