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Review
. 2019 Sep;9(3):421-448.
doi: 10.1007/s13555-019-0313-2. Epub 2019 Jul 22.

Genetic Hair Disorders: A Review

Azhar Ahmed  1   2 , Hind Almohanna  3 , Jacob Griggs  4 , Antonella Tosti  4
Affiliations
Review

Genetic Hair Disorders: A Review

Azhar Ahmed et al. Dermatol Ther (Heidelb). 2019 Sep.

Abstract

Hair loss in early childhood represents a broad differential diagnosis which can be a diagnostic and therapeutic challenge for a physician. It is important to consider the diagnosis of a genetic hair disorder. Genetic hair disorders are a large group of inherited disorders, many of which are rare. Genetic hair abnormalities in children can be an isolated phenomenon or part of genetic syndromes. Hair changes may be a significant finding or even the initial presentation of a syndrome giving a clue to the diagnosis, such as Netherton syndrome and trichothiodystrophy. Detailed history including family history and physical examination of hair and other ectodermal structures such as nails, sweat glands, and sebaceous glands with the use of dermoscopic devices and biopsy all provide important clues to establish the correct diagnosis. Understanding the pathophysiology of genetic hair defects will allow for better comprehension of their treatment and prognosis. For example, in patients with an isolated hair defect, the main problem is aesthetic. In contrast, when the hair defect is associated with a syndrome, the prognosis will depend mainly on the associated condition. Treatment of many genetic hair disorders is focused on treating the primary cause and minimizing trauma to the hair.

Keywords: Alopecia; Children; Ectodermal dysplasias; Genetic hair disorders; Hair loss; Hair shaft disorders; Hypotrichosis.

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Conflict of interest statement

Dr. Antonella Tosti: Consultant P&G, DS Laboratories, Monat, PI: Incyte, Pfeizer, Aclaris, Nutrifol. Azhar Ahmed, Hind Almohanna and Jacob Griggs have nothing to disclose. Dr. Antonella Tosti is a member of the journals Editorial Board.

Figures

Fig. 1
Fig. 1
Autosomal recessive woolly hair/hypotrichosis. Note sparse blond curled hair
Fig. 2
Fig. 2
Trichorrhexis invaginate under microscopy. Invagination of the distal part of the hair shaft into its proximal part forming a ball in a cup appearance
Fig. 3
Fig. 3
Trichoscopic finding in trichorrhexis invaginate. Note the invagination of the distal part of the shaft into its proximal part forming a ball in a cup appearance (black arrow). Proximal cupped end also seen after the distal end has fractured (golf tee sign) (red arrow)
Fig. 4
Fig. 4
Clinical picture of monilethrix. Alopecia is more severe in the occipital region that also presents keratotic follicular papules
Fig. 5
Fig. 5
Trichoscopic finding in monilethrix. Typical beaded or moniliform appearance of the hair
Fig. 6
Fig. 6
Trichoscopic feature of pili torti. Note the flattened hair shaft that twists over its own axis
Fig. 7
Fig. 7
Trichoscopic feature of pili annulati with bright band along the hair shaft
Fig. 8
Fig. 8
Hypohidrotic ectodermal dysplasia. Scalp hair is thin, sparse, slow-growing, and lightly pigmented. Note the flat nasal bridge
Fig. 9
Fig. 9
Clinical picture of AEC syndrome with scalp erosions leading to scarring alopecia and hypotrichosis
See this image and copyright information in PMC

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