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.
| Original language | English (US) |
|---|---|
| Journal | Dermatology and Therapy |
| DOIs | |
| State | Published - Jan 1 2019 |
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Keywords
- Alopecia
- Children
- Ectodermal dysplasias
- Genetic hair disorders
- Hair loss
- Hair shaft disorders
- Hypotrichosis
ASJC Scopus subject areas
- Dermatology
Cite this
Genetic Hair Disorders : A Review. / Ahmed, Azhar; Almohanna, Hind; Griggs, Jacob; Tosti, Antonella.
In: Dermatology and Therapy, 01.01.2019.Research output: Contribution to journal › Review article
}
TY - JOUR
T1 - Genetic Hair Disorders
T2 - A Review
AU - Ahmed, Azhar
AU - Almohanna, Hind
AU - Griggs, Jacob
AU - Tosti, Antonella
PY - 2019/1/1
Y1 - 2019/1/1
N2 - 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.
AB - 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.
KW - Alopecia
KW - Children
KW - Ectodermal dysplasias
KW - Genetic hair disorders
KW - Hair loss
KW - Hair shaft disorders
KW - Hypotrichosis
UR - http://www.scopus.com/inward/record.url?scp=85069637541&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85069637541&partnerID=8YFLogxK
U2 - 10.1007/s13555-019-0313-2
DO - 10.1007/s13555-019-0313-2
M3 - Review article
AN - SCOPUS:85069637541
JO - Dermatology and Therapy
JF - Dermatology and Therapy
SN - 2190-9172
ER -