Table 1 Clinical features
From: H syndrome: 5 new cases from the United States with novel features and responses to therapy
Characteristic | Family 1 | Family 2 | Family 3 | ||||
|---|---|---|---|---|---|---|---|
Patient 1 | Patient 2 | Patient 3 | Patient 4 | Patient 5 | |||
Origin | Hispanic | Caucasian | Caucasian | Caucasian, Sephardic Jew | Caucasian, Sephardic Jew | ||
Gender | Male | Male | Female | Female | Female | ||
Age of first manifestation | 6Â months | 6Â months | 4Â years 2Â months | 12Â years | 5Â years | ||
Age at diagnosis | 2Â years 5Â months | 18Â years | 8Â years 4Â months | 20Â years | 15Â years | ||
Current Age | 3Â years | 19Â years | 9Â years | 20Â years | 16Â years | ||
Manifestations | Incidence | Â | |||||
Literaturea | This Series | ||||||
Cutaneous Hyperpigmentation/Hypertrichosis | 68% | 80% | + | + | – | + | + |
Flexion Contractures of Fingers or Toes | 56% | 80% | + | + | + | – | + |
Hearing loss | 53% | 60% | + | + | + | – | – |
Short Stature | 49% | 80% | + | + | + | – | + |
Exophthalmos/ Proptosis/ Eyelid Swelling | 28% | 20% | – | + | – | +/− | – |
Insulin-Dependent Diabetes Mellitus | 23% | 60% | – | – | + | + | + |
Flat foot/ Foot Deformity | 20% | 20% | – | + | – | – | – |
Arthritis | 8% | 80% | + | + | – | + | + |
Hydrocephalus/ Benign Intracranial Hypertension/ Brain Edema | 5% | 40% | + | + | – | – | – |
Macrocephaly/ Frontal Bossing | (not given) | 40% | + | + | – | – | – |
Additional Findings (with Incidence from the Literature)a | Patient 1: Renal anomaly (6%), Hepatomegaly (43%), Autoimmune hepatitis | Patient 2: Scrotal mass, Cardiac anomalies (34%), IgG subclass deficiency, Hypertriglyceridemia (4%), Recurrent fever (5%), Gluteal lipodystrophy (6%), Arcus Senilus (14%), Gastrointestinal involvement (15%), Lymphadenopathy (24%), Absent IVC, Recurrent pericarditis | Patient 5: Respiratory and nasal mucosa swelling (10%) | ||||