H syndrome: The first 79 patients

Molho‐Pessach, Vered; Ramot, Yuval; Francès, C.; Doviner, Victoria; Babay, Sofia; Luis, Siekavizza Juan; Broshtilova, Valentina; Zlotogorski, Abraham

doi:10.1016/j.jaad.2013.09.019

Cited by 133 publications

(172 citation statements)

References 42 publications

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“…Lymph nodes with RDD are present in 20% of patients. 78 RDD lesions can also be detected in skin or nasal localizations. 79 A histopathological pattern of RDD was reported in the lymph nodes of 41% of patients with autoimmune lymphoproliferative syndrome (ALPS) type Ia, with TNFRSF6 heterozygous germ line mutations affecting the gene encoding Fas.…”

Section: Inherited Conditions Predisposing To Rdd or Rdd-like Lesionsmentioning

confidence: 99%

Revised classification of histiocytoses and neoplasms of the macrophage-dendritic cell lineages

Emile

Abla

Fraïtag

et al. 2016

Blood

1,218

1,251

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The histiocytoses are rare disorders characterized by the accumulation of macrophage, dendritic cell, or monocyte-derived cells in various tissues and organs of children and adults. More than 100 different subtypes have been described, with a wide range of clinical manifestations, presentations, and histologies. Since the first classification in 1987, a number of new findings regarding the cellular origins, molecular pathology, and clinical features of histiocytic disorders have been identified. We propose herein a revision of the classification of histiocytoses based on histology, phenotype, molecular alterations, and clinical and imaging characteristics. This revised classification system consists of 5 groups of diseases: (1) Langerhans-related, (2) cutaneous and mucocutaneous, and (3) malignant histiocytoses as well as (4) Rosai-Dorfman disease and (5) hemophagocytic lymphohistiocytosis and macrophage activation syndrome. Herein, we provide guidelines and recommendations for diagnoses of these disorders.

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Section: Inherited Conditions Predisposing To Rdd or Rdd-like Lesionsmentioning

confidence: 99%

Revised classification of histiocytoses and neoplasms of the macrophage-dendritic cell lineages

Emile

Abla

Fraïtag

et al. 2016

Blood

1,218

1,251

View full text Add to dashboard Cite

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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: 63%

“…Molecular studies performed on peripheral blood revealed a recurrent mutation c.G1309>A, which is expected to lead to glycine‐to‐arginine substitution in hENT3 (p.Gly437Arg) 1, 3, 6. Clinical and laboratory workup demonstrated a bilateral sensorineural hearing loss.…”

Section: Casementioning

confidence: 99%

The histopathology and phenotypic variability in H syndrome

Dias‐Polak

Indelman

Bergman

et al. 2018

Clinical Case Reports

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“…Patients with this syndrome were initially described in families of Arab and Bulgarian origin having consanguineous parents (1,2). A few patients have been reported from India (3,4).…”

Section: Discussionmentioning

confidence: 99%