Monilethrix

Bajaj, A.K.; Swarup, V.; Gupta, S.C.; Shukla, S.R.; Pande, R.C.; Gupta, O.P.

doi:10.1159/000250930

Cited by 4 publications

(2 citation statements)

References 6 publications

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“…It is transmitted as an autosomal dominant trait with incomplete penetrance and extremely variable expressivity [l-31. The latter characteristic may be partly due to hormonal fluctuations, including puberty [3,4] and pregnancy [1,3,, and to environmental factors such as seasonal changes [5].…”

Section: Introductionmentioning

confidence: 99%

The genetic analysis of monilethrix in a large inbred kindred

et al. 1982

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Section: Introductionmentioning

confidence: 99%

The genetic analysis of monilethrix in a large inbred kindred

et al. 1982

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“…There may be considerable variability in clinical features including disease severity and associated symptoms. The course of the disease may be influenced by hormonal factors such as puberty (8,11) and pregnancy (10,12,13), and by environmental factors such as seasonal changes (13).…”

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confidence: 99%

Monilethrix—Improvement by Hormonal Influences?

Gebhardt¹,

Tw²,

Claussen

et al. 1999

Pediatric Dermatology

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Monilethrix is a hereditary hair disorder that occurs monosymptomatically or as a monilethrix syndrome combined with other ectodermal anomalies. We report two siblings with the triple combination of monilethrix, keratosis pilaris, and koilonychia. In one of our patients, the hair disorder improved, with maximum hair growth up to 8 cm in length after her first menstrual period occurred, suggesting that hormonal influences may improve the hair disorders in monilethrix.

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Keratosis Pilaris and its Subtypes: Associations, New Molecular and Pharmacologic Etiologies, and Therapeutic Options

Wang

Orlow

2018

Am J Clin Dermatol

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Keratosis pilaris is a common skin disorder comprising less common variants and rare subtypes, including keratosis pilaris rubra, erythromelanosis follicularis faciei et colli, and the spectrum of keratosis pilaris atrophicans. Data, and critical analysis of existing data, are lacking, so the etiologies, pathogeneses, disease associations, and treatments of these clinical entities are poorly understood. The present article aims to fill this knowledge gap by reviewing literature in the PubMed, EMBASE, and CINAHL databases and providing a comprehensive, analytical summary of the clinical characteristics and pathophysiology of keratosis pilaris and its subtypes through the lens of disease associations, genetics, and pharmacologic etiologies. Histopathologic, genomic, and epidemiologic evidence points to keratosis pilaris as a primary disorder of the pilosebaceous unit as a result of inherited mutations or acquired disruptions in various biomolecular pathways. Recent data highlight aberrant Ras signaling as an important contributor to the pathophysiology of keratosis pilaris and its subtypes. We also evaluate data on treatments for keratosis pilaris and its subtypes, including topical, systemic, and energy-based therapies. The effectiveness of various types of lasers in treating keratosis pilaris and its subtypes deserves wider recognition.

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Monilethrix

Abstract: A case of monilethrix with an extensive pedigree is being reported. There was associated keratosis pilaris and involvement of eyebrows in addition to the scalp. Argininosuccinic acid was absent in the urine.

Cited by 4 publications

References 6 publications

The genetic analysis of monilethrix in a large inbred kindred

The genetic analysis of monilethrix in a large inbred kindred

Monilethrix—Improvement by Hormonal Influences?

Keratosis Pilaris and its Subtypes: Associations, New Molecular and Pharmacologic Etiologies, and Therapeutic Options

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