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

Al-Hamdi, Khalil I.; Mohammed, Adel Gassab; Makki, Ussama M.; Ismael, Dooha Khaleel; Saadoon, Anwar Qais

doi:10.1016/j.jdcr.2020.08.002

Cited by 3 publications

(4 citation statements)

References 16 publications

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“…Most of the reported cases of H syndrome were from Asian, Arabian, Persian, Hispanic, and Caucasian ethnicities [ 5 , 11 - 13 ], And so far, to the best of our knowledge, this is the first case of H syndrome reported in the literature presented in a patient of African ethnicity. And while the patients we are reporting exhibited near (95%) to the common findings of H syndrome described in the literature including hyperpigmentation (68%), hypertrichosis (68%), short stature (49%), hypogonadism (6%), splenomegaly (43%), heart anomalies (34%), hematological abnormalities, arthritis (8%), foot deformity (20%), hallux valgus (20%), flexion contractures of toes (56%), exophthalmos (28%), and gynecomastia [ 1 , 11 , 12 ], in addition to the characteristic histological finding of H syndrome, genetic diagnosis, which was logistically burdensome to obtain in our low-resource settings, is strongly advised for further confirmation of the diagnosis and for genetic and familial counseling and support.…”

Section: Discussionmentioning

confidence: 96%

“…H syndrome is an extremely rare entity that is autosomal-recessively inherited and presents with a variety of multisystemic manifestations and overlapping features with various other conditions. So far, it is estimated that there is a total number of near 100-120 cases worldwide since the first reported in 2008 [ 1 , 3 , 5 ], with an estimated incidence rate of less than 1 in 1,000,000 [ 6 ].…”

Section: Discussionmentioning

confidence: 99%

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H Syndrome: Report of The First Case in African Ethnicity

Elmansour¹,

Babikir²

2022

Cureus

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H syndrome is an autosomal recessive multisystemic disease with a very low prevalence rate, characterized by indurated cutaneous hyperpigmentation, hypertrichosis, and various systemic manifestations. The syndrome is caused by mutations in SLC29A3 gene on chromosome 10q23, encoding for human equilibrative transporter 3 (hENT3). So far, only 100-120 patients with H syndrome have been described in the literature, with predominance among Indian, North-American, and Arab ethnicities. This case report describes the first one of H-syndrome rarities in African ethnicity, a 30-year-old Sudanese male misdiagnosed with rheumatoid arthritis. The patient exhibited more than 90% of the clinical characteristics of H syndrome including obesity, short stature, characteristic hyperpigmented, sclerotic cutaneous plaques with induration and hypertrichosis, inflammatory arthropathy, hallux valgus, flexion deformity of toes, exophthalmos, cardiac anomaly, hypogonadism, and splenomegaly and characteristic histologic findings of dermal fibrosis, histiocytosis, lymphoid aggregation, and vascular proliferation. H syndrome is an extremely rare autoinflammatory condition that has a complex constellation of pleiotropic manifestations with multisystemic involvement. And while further identification and better pathophysiological understanding of H syndrome are needed, physicians worldwide should be vigilant about the overlapping features of H syndrome with many other rheumatological, cutaneous, and genetic diseases.

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Section: Discussionmentioning

confidence: 96%

Section: Discussionmentioning

confidence: 99%

H Syndrome: Report of The First Case in African Ethnicity

Elmansour¹,

Babikir²

2022

Cureus

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“…Human ENT3 (hENT3) is located in the cell's late endosomes/lysosomes/mitochondria and may impact macrophage homeostasis and function. 8 It is likely to transport nucleotides from the lysosomal and mitochondrial membranes to the cytoplasm, maintaining a cytoplasmic nucleotide pool for various cellular pathways. 9 A defective SLC29A3 gene can lead to abnormal trafficking of lysosomal nucleotides, causing a change in the cytoplasmic pool, which, in turn, increases lysosomal pH and blocks some cellular pathways.…”

Section: Discussionmentioning

confidence: 99%

“…First described by Molho‐Pessach in 2008, 1 the transport mechanism involves the movement of free nucleotides from endosomes, lysosomes, and cytoplasm to the inner mitochondrial membrane. Human ENT3 (hENT3) is located in the cell's late endosomes/lysosomes/mitochondria and may impact macrophage homeostasis and function 8 . It is likely to transport nucleotides from the lysosomal and mitochondrial membranes to the cytoplasm, maintaining a cytoplasmic nucleotide pool for various cellular pathways 9 .…”

Section: Discussionmentioning

confidence: 99%

Cases with the H syndrome presenting with skin and bone findings

Kose,

Baskaya,

Kilic

2024

Aust J Dermatology

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BackgroundThe H syndrome is an autosomal recessive disease characterized by hyperpigmentation, hypertrichosis and sensorineural hearing loss.MethodsA mutation in the coding of the human equilibrative nucleoside transporter 3 (hENT3) within the SLC29A3 gene on chromosome 10q22 leads to the manifestation of this disease. In this report, we present two cases of H syndrome.ResultsThe first patient exhibits hyperpigmentation, hypogonadism, Type 1 diabetes mellitus, arthritis and osteoporosis. The second patient experiences hyperpigmentation, hypertrichosis, osteopenia and hypogonadism.ConclusionOur objective is to broaden the clinical spectrum of H syndrome, highlighting the involvement of arthritis, hyperinflammation and low bone mineral density in individuals with this disorder.

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Rheumatological manifestations of H syndrome

Rahma,

Tahiri,

Cherkaoui Dekkaki

et al. 2024

Reumatologia

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H syndrome (HS) is a rare autosomal recessive genodermatosis characterised by cutaneous hyperpigmentation, hypertrichosis, sclerodermatous thickening, and multisystemic involvement. It results from mutations in the <i>SLC29A3</i> gene encoding the human equilibrative nucleoside transporter 3, leading to impaired histiocyte apoptosis and unchecked proliferation. We report the case of a 24-year-old Moroccan male who had a history of insulin-dependent diabetes mellitus. He developed hyperpigmented skin patches with hypertrichosis and induration. Musculoskeletal findings included bilateral hallux valgus, pes planus, reducible flexion contractures of the proximal interphalangeal joints, and restricted ankle dorsiflexion. Additional findings consist of lymphadenopathy, hepatomegaly, hypogonadism, and ophthalmic manifestations. Investigations showed elevated sedimentation rate, anaemia, and osteopaenia. Ankle ultrasound revealed calcaneal enthesopathy and subcutaneous infiltration. In reporting this case, we aim to highlight the significant rheumatological involvement that can arise in patients with H syndrome and explore potential treatment options to improve the musculoskeletal findings.

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

Cited by 3 publications

References 16 publications

H Syndrome: Report of The First Case in African Ethnicity

H Syndrome: Report of The First Case in African Ethnicity

Cases with the H syndrome presenting with skin and bone findings

Rheumatological manifestations of H syndrome

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