Woolly hair nevus: case report and review of literature

Gomes, Tiago Fernandes; Guiote, Victoria; Henrique, Martinha

doi:10.5070/d3261047188

Cited by 6 publications

(10 citation statements)

References 19 publications

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“…Woolly hair nevus, first described by Wise, 8 is characterized by unruly and tightly curled hair restricted to a limited area of the scalp. 9,10 In Post's classification, WHN can be subdivided in three types: type 1, no cutaneous involvement; type 2, associated linear verrucous epidermal nevus; and type 3, acquired in young adult patients in whom the scalp has short, dark, and twisted hair. 8,9 Besides epidermal nevus, other cutaneous involvements such as SN, 11 pigmented macules, 10 and white sponge nevus 12 have been reported to accompany WHN.…”

Section: Discussionmentioning

confidence: 99%

Woolly hair nevus caused by somatic mutation and Costello syndrome caused by germline mutation in HRAS: Consider parental mosaicism in prenatal counseling

Liang

Guo

et al. 2021

The Journal of Dermatology

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Germline mutations in HRAS cause Costello syndrome (CS), while mosaic mutations in HRAS show a variability of phenotypes, ranging from mild features such as keratinocytic epidermal nevus (KEN), sebaceous nevus (SN), woolly hair nevus (WHN) with KEN, to severe manifestations of CS with cutis laxa. We report two individuals. The first was a 2‐year‐old boy with woolly hair nevus (WHN) without any other cutaneous involvement, in whom somatic HRAS mutation (c.34G>A; p.Gly12Ser) was identified in his affected scalp and hair follicle specimens. This is the first reported WHN type 1 (no cutaneous involvement) patient caused by somatic HRAS mutation. The other individual was a 12‐year‐old girl with CS caused by germline HRAS mutation (c.34G>A), that manifested with coarse face, palmoplantar keratoderma, deep palmar and plantar creases, hyperpigmented patches, asymmetry and deformity of lower limbs, atopic dermatitis, as well as mental retardation. Of note, a linear hyperpigmented plaque was observed in her father’s lumbosacral region. Although the father refused to provide semen and skin tissue for further examination, this reminds us of possible mosaicism in parents of individuals with germline de novo HRAS mutation and underlines the importance of parental evaluation for prenatal counseling.

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Section: Discussionmentioning

confidence: 99%

Woolly hair nevus caused by somatic mutation and Costello syndrome caused by germline mutation in HRAS: Consider parental mosaicism in prenatal counseling

Liang

Guo

et al. 2021

The Journal of Dermatology

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“…The HRAS c.34G>G (p.Gly12Ser) variant is the unique mutation reported in the literature related to WHN and has been identified in four cases of WHN with keratinocytic epidermal nevus. 1 This particular mutation leads to mild activation of HRAS, which is believed to be associated with the specific phenotype of WHN. Recently, Liang et al described the first report of WHN without other cutaneous involvement (type 1) related with the same HRAS mutation.…”

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confidence: 99%

“…WHN is a rare condition with up to 50 cases described in the literature characterized by limited areas on the scalp displaying coiled, curly, and hypopigmented hair. 1 It is classified into three types: type 1, without cutaneous involvement; type 2, associated with linear verrucous epidermal nevus; and type 3, acquired in young adults with curly, dark, and short hair. 2 In recent years, several reports have contributed to a better characterization of genetics in this condition.…”

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confidence: 99%

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Woolly hair nevus type 1 caused by somatic HRAS p.A59T mutation

March‐Rodriguez,

Escolà,

Lobato‐Berezo

et al. 2023

Int J Dermatology

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“…[ 10 ] Several associations of WHN are described, such as ophthalmologic, auditory, renal, cutaneous, dental, and skeletal manifestations. [ 11 ] The diagnosis is suspected clinically and can be confirmed on light and or scanning electron microscopy. Till date, there is no treatment for WHN except for surgery.…”

mentioning

confidence: 99%