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PubMed1991

Monilethrix treated with oral retinoids.

We report a childhood case of monilethrix in which oral etretinate was given. Clinically, the cosmetic benefit was marginal. However, of note was that there was an increase in hair length with loss of beading along the shaft of these hairs. The background scalp appearance of keratosis pilaris persisted in these areas. This suggests that the beading alone is influenced by etretinate and is not solely an artefact secondary to the hyperkeratotic condition at the follicular opening.

Administration, Oral↗

PubMed1984

Monilethrix: an ultrastructural study.

Characteristic moniliform hairs of monilethrix were ultrastructurally examined. By scanning electron microscope, nodes and internodes were seen alternating on the affected hair; the nodes were normal in appearance and thickness, while the internodes were thin and showed ridges and flutes. By transmission electron microscope, the cross sections of the internodes revealed wrinkling of the hair cuticular cells and a reduced number of the cortical cells. Cross sections of the cortical cells per se showed a similar size and a normal keratin pattern in both nodes and internodes, compared with those of control hairs from normal individuals. From these findings, the internodes seemed to be the pathological portions of the moniliform hair, and such abnormal thinning of hair shaft might be caused by a periodical dysfunction of the hair matrix, especially in the hair cortex.

Female↗

PubMed1998

Monilethrix: a keratin hHb6 mutation is co-dominant with variable expression.

Monilethrix is a rare autosomal dominant disease characterized by hair fragility and hyperkeratotic papules. Mutations in type-II hair specific keratins hHb6 and hHb1 have recently been reported. We describe a large family with a E410D mutation in the evolutionary conserved helix termination motif of keratin hHb6 that was variably expressed among 12 heterozygous members, and severely expressed among 3 homozygous members. These 3 patients had essentially complete lack of scalp hair since the age of 2 months with no improvement over time as well as follicular keratotic involvement extensively expressed over the scalp and large body areas. The variability seen in heterozygous patients, along with seasonal and pregnancy-related improvement suggest that other genetic or environmental factors may modify keratin gene expression. This represents the first report of a co-dominant keratin hHb6 mutation resulting in severe disease.

Base Sequence↗

PubMed1978

Systemic griseofulvin therapy of monilethrix.

After a report of clinical effectiveness, four adult patients with monilethrix were treated with griseofulvin for six months at an orally administered dose of 500 mg (microsize) per day. No objective or subjective improvement was observed.

Adolescent↗

PubMed1990

[Monilethrix in 3 generations].

Monilethrix, a kind of hair aplasia, is described in patients belonging to three generations. An original treatment scheme used is described.

Adult↗

PubMed1976

[Spinocerebellar ataxia with monilethrix, typical facial features, and dental anomalies].

The authors present a form of heredodegenerative spinocerebellar ataxia with concomitant involvement of ectodermal structures, different from other variants. The disease was characterized by spinocerebellar ataxia (the complete form); curly, thin, short and dense hair, mikroskopically monilethrix; a characteristic face (hypertelorism, flattened and wide base of the nose, prominent nostrils, large mouth, thick lips); and abnormal teeth which were reduced in number and had gaps inbetween. The psycho intellectual development and the voice of the patient were normal. The first neurological symptomes were observed at the age of 3 years and progressively developed until now at the age of 6 years. Data necessary to establish the mode of hereditary transmission were not available.

Adolescent↗

PubMed1964