Alopecia, short stature and loss of subcutaneous fat are the hallmarks of this rare syndrome. Skin fibroblasts have reduced ability to replicate. A somewhat similar and very rare condition, the Smith-Mulvihill syndrome, presents with short stature, progeria, microcephaly with ocular and dental anomalies, and pigmented naevi. In some instances recurrent infections and diminished IgG levels and in one patient lymphopenia with diminished T and B cells were found. It is distinguished from the Chediak-Higashi syndrome by the absence of giant granules.
Patients have a propensity for fungal, viral and bacterial infections.
Immunoglobulins and DTH may be decreased. Abnormal T-cell cytotoxicity and diminished NK cell activity have been described. These patients have in addition to increased susceptibility to infection, a lymphoproliferative reaction similar to that seen in the Chediak-Higashi syndrome which leads to early death. The defect has been corrected by bone-marrow transplantation. This disease is characterized by cutaneous pigmentation, nail dystrophy and oral leukoplakia.