Table 1.
Clinical features
| 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 | 6 months | 6 months | 4 years 2 months | 12 years | 5 years | ||
| Age at diagnosis | 2 years 5 months | 18 years | 8 years 4 months | 20 years | 15 years | ||
| Current Age | 3 years | 19 years | 9 years | 20 years | 16 years | ||
| Manifestations | Incidence | ||||||
| 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%) | ||||
aas reported in Molho-Pessach, V. et al. (2014)