We report the case of a 56-year-old woman with a history of episodes of vomiting and coma. Hyperammoniemia, hypouremia, hypercitrullinemia and the decreased arginino-succinic synthetase activity on skin fibroblast cultures permitted us to diagnose citrullinemia. We think that the skin changes, i.e. atrophy of the epidermis, thin and short collagen bundles, dystrophic elastic fibers, increased fundamental matrix, were due to the undernutrition state and were not specific. The dosage of the amino acids of the total skin showed a decreased hydroxylation of lysine in the insoluble fraction, and the presence of pro-line and hypdroxyproline in the soluble fraction. These metabolic changes were not specific and evidenced the disorganization and the lysis of the connective tissue due to the undernutritional state. The nail changes, i.e. clubbed fingers and ‘half-and-half nail’ syndrome, were not specific either. The hair changes mentioned by other authors in newborns and young children, i.e. sparse and brittle blond hair, presence of transverse opaque bands (‘irregularly banded hair’), were not present in our case. We only found changes in the cuticle and some trichorrhexis which were not specific of the disease either.

Keywords:
Citrullinemia, Skin, Hair, Nail, Electron microscopy, Amino acids
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© 1984 S. Karger AG, Basel
1984
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