Only published articles written in English were chosen. Three independent researchers performed a literature search to identify all relevant studies. The terms “Hair loss,” “Alopecia,” “Hypotrichosis,” “Trichorrhexis nodosa,” “Trichorrhexis invaginate,” “Bamboo hair,” “Pili torti,” “Trichothiodystrophy,” “Monilethrix,” “Pili annulati,” “Woolly hair,” “Uncombable hair syndrome,” “Pili trianguli et canaliculi,” “Ectodermal dysplasias,” “Trichorhinophalangeal syndrome,” “pediatric,” “congenital,” “genetic,” and “children” were included as a search terms to identify all relevant publications. We searched keywords using PubMed and Medline to identify all relevant publications. Table 1 summarize the gene defect, clinical presentation, and treatment tried for each genetic hair disorder. The review will focus on hypotrichosis, hair shaft disorders (with and without increased fragility), and ectodermal dysplasia. In this review we summarize the main genetic hair disorders and discuss the clinical features, known associated genetic abnormalities, and current treatment modalities. Affected children and their parents are usually psychologically impacted by such conditions. So, the diagnosis of these genetic disorders is important not only for the initiation of proper therapy but also for the detection of other associated ectodermal anomalies and for appropriate genetic counselling.
Genetic hair disorders can cause severe alopecia in both adults and children and may occasionally present as part of a multisystem syndrome. Human hair is a key phenotypic indicator of possible underlying metabolic or genetic syndromes.
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Hair is a skin appendage that shares a common developmental pathway with other ectodermal tissue. Treatment of many genetic hair disorders is focused on treating the primary cause and minimizing trauma to the hair. In contrast, when the hair defect is associated with a syndrome, the prognosis will depend mainly on the associated condition. For example, in patients with an isolated hair defect, the main problem is aesthetic.
Understanding the pathophysiology of genetic hair defects will allow for better comprehension of their treatment and prognosis. 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. 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. Genetic hair abnormalities in children can be an isolated phenomenon or part of genetic syndromes. Genetic hair disorders are a large group of inherited disorders, many of which are rare. It is important to consider the diagnosis of a genetic hair disorder.
Hair loss in early childhood represents a broad differential diagnosis which can be a diagnostic and therapeutic challenge for a physician.