Pili Annulati with Severe Trichorrhexis Nodosa: A Case Report and Review of the Literature

Gonzalez, Adrianna; Borda, Luis J.; Tosti, Antonella

doi:10.1159/000491910

Cited by 5 publications

(5 citation statements)

References 12 publications

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“…So far, there have been case reports of trichorrhexis nodosa with pili annulati [7,8]. To the best of our knowledge, ours is the first case of pili torti, pili annulati, and trichorrhexis nodosa in the same individual with autosomal dominant inheritance.…”

Section: Discussionmentioning

confidence: 63%

“…Pili annulati may be seen sporadically or inherited as an autosomal dominant trait. Although pili annulati has been classified as a hair shaft defect without fragility, fragility may be found due to associated trichorrhexis nodosa [7,8]. Trichorrhexis nodosa is the most common among all hair shaft defects and is characterized by hair shaft fracture due to damage to the cuticle and intercellular cement responsible for binding cells together [4].…”

Section: Discussionmentioning

confidence: 99%

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A familial case report of pili torti, pili annulati, and trichorrhexis nodosa showing autosomal dominant inheritance with microscopic findings

Prasad¹,

Mohta²,

Soni³

et al. 2022

Our Dermatol Online

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Hair shaft disorders encompass a wide range of hair shaft defects with or without fragility, which could be acquired or inherited genetically. Hair shaft defects may be localized or generalized and are characterized by changes in color, structure, length, and density. Pili torti, also called twisted hair, is a clinical entity in which the hair shaft is flattened and twisted by 180° along its axis. Pili annulati is described as striped hair, showing alternate light and dark bands. Trichorrhexis nodosa is the fracture of the hair shaft. Pili annulati and trichorrhexis nodosa has been reported in a single patient. Herein, we report a familial case of pili torti, pili annulati, and trichorrhexis nodosa with autosomal dominant inheritance.

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Section: Discussionmentioning

confidence: 63%

Section: Discussionmentioning

confidence: 99%

A familial case report of pili torti, pili annulati, and trichorrhexis nodosa showing autosomal dominant inheritance with microscopic findings

Prasad¹,

Mohta²,

Soni³

et al. 2022

Our Dermatol Online

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“…These air-filled cavities appear dark on light microscopy [85]. Usually PA is not associated with hair fragility; however, a few cases associated with severe hair fragility have been reported [86,87].…”

Section: Hair Shaft Disorders Without Hair Fragilitymentioning

confidence: 99%

Genetic Hair Disorders: A Review

Ahmed

Almohanna

Griggs

et al. 2019

Dermatol Ther (Heidelb)

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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.

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“…Although most cases are not associated with fragility, there are reports of few cases with fragility. [ 22 , 23 ] There are some reports of association between primary immunoglobin A deficiency and autoimmune thyroid disease in patients with PA.[ 24 ] On trichoscopy, alternating white and dark bands in hair shafts can be seen in both blond and dark hairs. These light-colored bands cover 50–100% of the hair shaft thickness.…”

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Hair shaft disorders in children – An update

Bhat

Trumboo

Krishan

2023

Indian Dermatol Online J

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Disorders of hair shaft are a diverse group of congenital and acquired abnormalities of the hair that can pose a diagnostic and therapeutic challenge to the dermatologists. Hair shaft abnormalities can occur as an isolated phenomenon or can be associated with an underlying genetic syndrome. Any change in the texture, appearance, and growth of the hair should prompt evaluation of the patient for the presence of any hair shaft anomaly. The diagnosis can be suggested by a complete history and physical examination of the hair-bearing areas as well as other ectodermal structures (nails and teeth). A key feature in the evaluation of hair shaft defects is to determine the fragility of the hair shaft that can be elucidated by performing the “tug test.” Trichoscopy and light microscopy serve as valuable tools in establishing the specific type of hair shaft disorder. An update of the approach for the diagnosis and management is included in this review.

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Pili Annulati with Severe Trichorrhexis Nodosa: A Case Report and Review of the Literature

Abstract: Pili annulati is generally classified as a hair shaft disorder without fragility. However, increased susceptibility to weathering is common. Severe breakage due to trichorrhexis nodosa is uncommon. We report a case and review the literature on this topic.

Cited by 5 publications

References 12 publications

A familial case report of pili torti, pili annulati, and trichorrhexis nodosa showing autosomal dominant inheritance with microscopic findings

A familial case report of pili torti, pili annulati, and trichorrhexis nodosa showing autosomal dominant inheritance with microscopic findings

Genetic Hair Disorders: A Review

Hair shaft disorders in children – An update

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