Noonan syndrome with loose anagen hair associated with trichorrhexis nodosa and trichoptilosis
نویسندگان
چکیده
We report a case of Noonan syndrome with loose anagen hair (NS/LAH), a rare variant of Noonan syndrome, with associated trichorrhexis nodosa and trichoptilosis. The SHOC2 mutation may be responsible for these additional hair shaft defects, revealing the importance of microscopic examination of hairs in these patients.
منابع مشابه
Sibs with mental and physical retardation and trichorrhexis nodosa with abnormal amino acid composition of the hair.
Trichorrhexis nodosa is a condition in which individual hairs develop areas where the shaft has split longitudinally into numerous small fibres. The hairs eventually break at these points leaving brush-like ends. Usually trichorrhexis nodosa results from mechanical trauma or harsh chemical treatment (Chernosky and Owens, 1966), but two inherited disorders, argininosuccinic aciduria (Allan et al...
متن کاملTranscriptional Hallmarks of Noonan Syndrome and Noonan-Like Syndrome with Loose Anagen Hair
Noonan syndrome (NS) is among the most common nonchromosomal disorders affecting development and growth. NS is genetically heterogeneous, being caused by germline mutations affecting various genes implicated in the RAS signaling network. This network transduces extracellular signals into intracellular biochemical and transcriptional responses controlling cell proliferation, differentiation, met...
متن کاملTrichoscopy of an Isolated Trichorrhexis Nodosa: A Case Report
© 2017 Indian Dermatology Online Journal | Published by Wolters Kluwer Medknow Trichorrhexis nodosa (TN) is a well‐known entity which affects hair shafts. Clinically, it presents as minute nodular concretions along the hair shaft. This is caused by the loss of cuticle and cortical fibers. On light microscopy, tiny nodules appear as “thrust paint brushes” as if two brushes are thrust into each o...
متن کاملAcquired Trichorrhexis Nodosa in a Girl: The Use of Trichoscopy for Diagnosis
Trichorrhexis nodosa (TN) is a common hair shaft abnormality. It is classified as congenital or acquired. Clinically, brittle and broken hair can be noted. We present here one case of acquired TN, which was diagnosed using trichoscopy, a non-invasive method. Trichoscopy shows nodular thickenings along the hair shafts at low magnification, and at higher magnification we can see hair shafts which...
متن کاملTrichoscopy as a diagnostic tool in trichorrhexis invaginata and Netherton syndrome*
Netherton syndrome is a rare autosomal recessive disease characterized by erythroderma, ichthyosis linearis circumflexa, atopy, failure to thrive and a specific hair shaft abnormality called trichorrhexis invaginata or bamboo hair, considered pathognomonic. We report the case of a 4-year-old boy with erythroderma since birth, growth deficit and chronic diarrhea. Trichoscopy was used to visualiz...
متن کامل