Ophthalmologic Findings in H Syndrome: A Unique Diagnostic Clue

Molho‐Pessach, Vered; Mechoulam, Hadas; Siam, Rula; Babay, Sofia; Ramot, Yuval; Zlotogorski, Abraham

doi:10.3109/13816810.2014.886272

Cited by 10 publications

(9 citation statements)

References 19 publications

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“…Other features previously reported and not seen in our patient include episcleritis, glaucoma, exophthalmos, and varicose veins …”

Section: Discussionsupporting

confidence: 73%

“…6 Other features previously reported and not seen in our patient include episcleritis, glaucoma, exophthalmos, and varicose veins. 7 H syndrome is an uncommon entity with only about a hundred cases previously reported. 2 The variable phenotypic presentations and rarity of this syndrome make it difficult to diagnose early, and it is often misdiagnosed initially.…”

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confidence: 99%

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Homozygosity for a novel large deletion in SLC29A3 in a patient with H syndrome

Shankar

Sudha

Priyadarshini

et al. 2019

Pediatric Dermatology

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H syndrome (OMIM 6027820) is a novel form of histiocytosis affecting multiple organs with peculiar cutaneous manifestations. It is an autosomal recessive genodermatosis caused by pathogenic mutations in SLC29A3 that encodes the human equilibrative nucleoside transporter, hENT3. The cutaneous manifestations can mimic other sclerodermoid conditions. We present a 15‐year‐old boy diagnosed with H syndrome with typical clinical features and homozygosity for a novel pathogenic mutation.

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“…Other features previously reported and not seen in our patient include episcleritis, glaucoma, exophthalmos, and varicose veins …”

Section: Discussionsupporting

confidence: 73%

mentioning

confidence: 99%

Homozygosity for a novel large deletion in SLC29A3 in a patient with H syndrome

Shankar

Sudha

Priyadarshini

et al. 2019

Pediatric Dermatology

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“…[ 8 ] Proptosis or exophthalmos has been described as a feature of H syndrome which was also seen in the present case. [ 9 ]…”

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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“…Phenotypic variability in H syndrome further emphasizes the need for diagnostic measures. The c.G1309>A mutation has been associated with multiple abnormalities including short stature, exophthalmos, dilated lateral scleral vasculature, hearing loss, congenital cardiac anomalies, hepatomegaly, hypogonadism, varicose veins, fixed flexion, hallux valgus, flat foot, malabsorption, and hyperglycemia 1, 6, 7, 8, 9, 10, 11, 12. Our patient had only hearing loss, a prominent feature of this syndrome 8.…”

Section: Discussionmentioning

confidence: 62%