The H syndrome

Mehta, Sharad; Masatkar, Vaishali; Mittal, Asit; Khare, Ashok Kumar; Gupta, Lalit

doi:10.4103/2319-7250.152135

Cited by 8 publications

(6 citation statements)

References 7 publications

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“…Approximately 100 cases of H syndrome have been reported till date, with a total of 10 cases from the Indian subcontinent. [ 10 ] No definitive treatment of this rare disorder exists which makes it important to recognise this entity; thus, avoiding unnecessary interventions for treating cutaneous manifestations. Genetic counselling may play an important role in the management.…”

Section: Discussionmentioning

confidence: 99%

H Syndrome: A case report and review of literature

et al. 2018

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H syndrome is a rare autosomal recessive syndrome characterised by constellation of clinical features and systemic manifestations including cutaneous hyperpigmentation, hypertrichosis, hepatosplenomegaly, hearing loss, heart anomalies, hypogonadism, hyperglycaemia, low height, and hallux valgus. We report a case of this syndrome with typical clinical findings. We report this case citing the rarity of this uncommon entity.

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Section: Discussionmentioning

confidence: 99%

H Syndrome: A case report and review of literature

et al. 2018

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“… 9 In our 3 cases, we have also reported musculoskeletal pain, and low BMD. 10 To date, fewer than 120 cases of H syndrome have been reported worldwide. Of these cases, the vitamin D level was only measured in a single case, and it was deficient.…”

Section: Discussionmentioning

confidence: 99%

H syndrome with low bone mineral density associated with hypovitaminosis D and low insulin-like growth factor 1

et al. 2020

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“…Initially, from the cutaneous findings, the differential diagnoses thought of were morphoea profunda and pseudoscleroderma, but later on the constellation of signs and histopathology guided us to the diagnosis of H syndrome. [5]…”

Section: Discussionmentioning

confidence: 99%

H syndrome - A case report

Yesudian

Sarveswari

Karrunya

et al. 2019

Indian Dermatol Online J

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This case report describes a case of H syndrome with characteristic cutaneous hyperpigmentation, hypertrichosis, sclerodermatous thickening, and multisystem involvement such as hearing loss and heart anomaly in an Indian patient. There are around 100 cases of this rare, autosomal recessive genodermatosis reported in the literature, out of which 10 cases are from the Indian population. The aim of this paper is to increase awareness about this novel inherited form of histiocytosis and insist on the role of dermatologists to identify such patients in our population where consanguinity is prevalent.

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The H syndrome

Cited by 8 publications

References 7 publications

H Syndrome: A case report and review of literature

H Syndrome: A case report and review of literature

H syndrome with low bone mineral density associated with hypovitaminosis D and low insulin-like growth factor 1

H syndrome - A case report

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