Figure 1.
Hyperpigmentation and hypertrichosis patches over the inner thighs, the genitalia, the inguinal, the abdominal and the lumbar areas sparing the knees, buttocks, upper back and the chest.
Figure 2.
Fixed flexion contractures of the proximal interphalangeal joints of the 4th and 5th fingers bilaterally.
Table 1:
Comparison of clinical, biological, and molecular features of reported cases of SLC29A3-related disorder (H syndrome) harboring the splice-site variant c.300+1G>C, including the present case.
| Clinical Feature | Present case | Bakhchane et al. (2016) | Elbarbary et al. (2013) | Elbarbary et al. (2013) | de Jesus et al. (2013) |
|---|---|---|---|---|---|
| DEMOGRAPHICS | |||||
| Geographical origin | Morocco | Morocco | Egypt | Egypt | Morocco |
| Gender | Female | Female | Female | Male | Female |
| Age at diagnosis | 17 years | 13 years | 19 years | 15 years | 12 years |
| CUTANEOUS FEATURES | |||||
| Hyperpigmentation | + | + | + | + | + |
| Hypertrichosis / sclerosis | + | + | − | NR | NR |
| Distribution of skin lesions | Genital areas, thighs, abdomen, lumbar region | Thighs, genital areas | Lower half of body | Cheeks and nose | Thighs |
| MUSCULOSKELETAL | |||||
| Flexion contractures / hallux valgus | + | NR | + | + | + |
| Short stature | + (−4 SD) | + (NR) | + (−4 SD) | + (−3 SD) | + (−3 SD) |
| ENDOCRINE MANIFESTATIONS | |||||
| Insulin-dependent diabetes mellitus | + | − | + | NR | + |
| Hypogonadism | + | − | + | − | − |
| NEUROLOGICAL & SENSORY | |||||
| Sensorineural hearing loss | + | + | + | + | NR |
| Cognitive development | Normal | NR | Mild intellectual disability (IQ 65) | Low-normal range | NR |
| SYSTEMIC INVOLVEMENT | |||||
| Hepatosplenomegaly | − | − | + | − | + |
| Lymphadenopathy | + | NR | + | − | − |
| Anaemia | + | NR | NR | NR | + |
| Elevated inflammatory markers | + | + | + | + | − |
| Echocardiogram findings | NA | Normal | Pericardial effusion; concentric LV hypertrophy | Normal | NA (cardiomegaly on chest X-ray) |
| HISTOPATHOLOGICAL FINDINGS | |||||
| Skin/ lymph node biopsy | Hyperplastic lymphadenopathy | Perivascular Inflammatory infiltrate (histiocytes, lymphocytes); thickened collagen bundles in hypodermis | Mild perivascular lymphocytic infiltrate | NA | Hyperpigmentation of basal cell layer |
| MOLECULAR GENETICS | |||||
| SLC29A3 variant (NM_018344) | c.300+lG>C (hom.) | c.300+1G>C and c.243delA (compound het.) | c.300+1G>C (hom.) | c.300+1G>C (hom.) | c.300+1G>C (hom.) |