Loose Anagen Hair in a Child with Noonan’s Syndrome

Tosti, Antonella; Misciali, Cosimo; Borrello, P.; Fanti, P. A.; Bardazzi, F; Patrizi, Annalisa

doi:10.1159/000247806

Cited by 24 publications

(15 citation statements)

References 4 publications

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“…25,26 The pathogenesis of loose anagen hair remains unknown. A scalp biopsy in a patient with loose anagen hair showed marked cleft formation between the inner root and the irregularly shaped hair shafts.…”

Section: Discussionmentioning

confidence: 99%

Mutation analysis of the SHOC2 gene in Noonan-like syndrome and in hematologic malignancies

et al. 2010

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Noonan syndrome is an autosomal dominant disease characterized by dysmorphic features, webbed neck, cardiac anomalies, short stature and cryptorchidism. It shows phenotypic overlap with Costello syndrome and cardio-facio-cutaneous (CFC) syndrome. Noonan syndrome and related disorders are caused by germline mutations in genes encoding molecules in the RAS/MAPK pathway. Recently, a gain-of-function mutation in SHOC2, p.S2G, has been identified as causative for a type of Noonan-like syndrome characterized by the presence of loose anagen hair. In order to understand the contribution of SHOC2 mutations to the clinical manifestations of Noonan syndrome and related disorders, we analyzed SHOC2 in 92 patients with Noonan syndrome and related disorders who did not exhibit PTPN11, KRAS, HRAS, BRAF, MAP2K1/2, SOS1 or RAF1 mutations. We found the previously identified p.S2G mutation in eight of our patients. We developed a rapid detection system to identify the p.S2G mutation using melting curve analysis, which will be a useful tool to screen for the apparently common mutation. All the patients with the p.S2G mutation showed short stature, sparse hair and atopic skin. Six of the mutationpositive patients showed severe mental retardation and easily pluckable hair, and one showed leukocytosis. No SHOC2 mutations were identified in leukemia cells from 82 leukemia patients. These results suggest that clinical manifestations in SHOC2 mutation-positive patients partially overlap with those in patients with typical Noonan or CFC syndrome and show that easily pluckable/loose anagen hair is distinctive in SHOC2 mutation-positive patients.

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Section: Discussionmentioning

confidence: 99%

Mutation analysis of the SHOC2 gene in Noonan-like syndrome and in hematologic malignancies

et al. 2010

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“…More than one keratin gene may be involved in the pathogenesis of LAS. 306 There is evidence of autosomal dominant transmission with variable expression and incomplete penetrance, 304,306,307 but sporadic cases and rare associations [308][309][310] have been reported.…”

Section: Uncombable Hair Syndromementioning

confidence: 99%

The genetics of hair shaft disorders

Cheng

Bayliss

2008

Journal of the American Academy of Dermatology

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“…4,5,[8][9][10][11][12][13][14][15][16][17][18][19]21,22 Parents may also be worried by the patients' diffuse hair loss or localized patches of alopecia. 4,5,[8][9][10][11][12][13][14][15][16]19,22,23 They may have easily pluckable hair, although this sign is not always obvious. 9,10,[12][13][14][15]19,21,23 However, as in our series, the pull test result is usually positive, with more than 50% of dystrophic anagen hairs per pull in pediatric cases of LAHS.…”

Section: Commentmentioning

confidence: 99%

“…Based on molecular studies, a dominant inheritance of LAHS was confirmed in the 3 families in whom * References 4,9,10,[12][13][14]16,18,19,[21][22][23]. the mutation was found, because both children and fathers bore the mutation.…”

Section: Commentmentioning

confidence: 99%