The parents gave a history of recurrent sneezing, repeated episodes of rhinitis and dryness of skin. There was a history of similar but milder complaints in an older sister. [ijdvl.com]

In the Russian family, we found a G to A transition at the first base of codon 402, resulting in a lysine substitution (GAG to AAG), designated E402K. [ncbi.nlm.nih.gov]

Lusterless, dry, brittle hair with alopecia and keratosis pilaris mainly on the occiput. The hair of this 4-year-old boy was never cut. Monilethrix that affects the entire scalp. Pathophysiology The etiology of monilethrix remains obscure. [emedicine.medscape.com]

Nail deformities may also be present as well as hair follicle keratosis and follicular hyperkeratosis. [en.wikipedia.org]

Hair follicle keratosis, follicular hyperkeratosis & nail deformities may also be manifested. There is no known effective treatment for the disorder. [signssymptoms.org]

Patients with monilethrix are also prone to developing keratosis pilaris (small bumps on the skin that often appear on the scalp and/or extensor surfaces of arms and thighs) in addition to nonspecific nail deformities such as koilonychia ("spoon nails [aocd.org]

It has been suggested that mutation in hHb1 produces a less severe phenotype. [ncbi.nlm.nih.gov]