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Hereditary hypotrichosis simplex.
Just M, Ribera M, Fuente MJ, Bielsa I, Ferrándiz C. Just M, et al. Dermatology. 1998;196(3):339-42. doi: 10.1159/000017909. Dermatology. 1998. PMID: 9621144 Review.
Hypotrichosis is a relatively common feature of a number of complex hereditary syndromes. However, the isolated variant, called hereditary hypotrichosis simplex (HHS), is especially uncommon. We present a Spanish family with 8 of 19 persons covering 4 generations af …
Hypotrichosis is a relatively common feature of a number of complex hereditary syndromes. However, the isolated variant, called hereditary …
Autosomal-dominant hypotrichosis with woolly hair: Novel gene locus on chromosome 4q35.1-q35.2.
Schlaweck AE, Tazi-Ahnini R, Ü Basmanav FB, Mohungoo J, Pasternack-Ziach SM, Mattheisen M, Oprisoreanu AM, Humbatova A, Wolf S, Messenger A, Betz RC. Schlaweck AE, et al. PLoS One. 2019 Dec 2;14(12):e0225943. doi: 10.1371/journal.pone.0225943. eCollection 2019. PLoS One. 2019. PMID: 31790498 Free PMC article.
Hypotrichosis simplex (HS) with and without woolly hair (WH) comprises a group of rare, monogenic disorders of hair loss. ...
Hypotrichosis simplex (HS) with and without woolly hair (WH) comprises a group of rare, monogenic disorders of hair loss. ...
Mutations in the CDSN gene cause peeling skin disease and hypotrichosis simplex of the scalp.
van der Velden JJAJ, van Geel M, Engelhart JJ, Jonkman MF, Steijlen PM. van der Velden JJAJ, et al. J Dermatol. 2020 Jan;47(1):3-7. doi: 10.1111/1346-8138.15136. Epub 2019 Oct 29. J Dermatol. 2020. PMID: 31663161 Free PMC article.
Monoallelic mutations in CDSN have also been described in an autosomal dominant inherited genodermatosis: hypotrichosis simplex of the scalp. This disease is characterized by progressive hair loss of the scalp with onset after early childhood. ...Our study strengthe …
Monoallelic mutations in CDSN have also been described in an autosomal dominant inherited genodermatosis: hypotrichosis simplex …
Successful treatment of hereditary hypotrichosis simplex by platelet rich plasma injection with topical minoxidil 2.
Ramadan WM, Hassan AM, El-Hawary EE, Gomaa NS. Ramadan WM, et al. J Dermatolog Treat. 2023 Dec;34(1):2169575. doi: 10.1080/09546634.2023.2169575. Epub 2023 Mar 2. J Dermatolog Treat. 2023. PMID: 36651821 Free article.
Background: Hereditary hypotrichosis simplex is a rare genetic hair disease that affects the scalp. ...Till now, no satisfactory treatment was used for the condition.Report: A 14 year old patient with hypotrichosis simplex was treated with combined pla …
Background: Hereditary hypotrichosis simplex is a rare genetic hair disease that affects the scalp. ...Till now, no satisfacto …
Novel mutations in Chinese hypotrichosis simplex patients associated with LSS gene.
Hua S, Ding Y, Zhang J, Qian Q, Li M. Hua S, et al. J Dermatol. 2021 Mar;48(3):408-412. doi: 10.1111/1346-8138.15697. Epub 2020 Nov 22. J Dermatol. 2021. PMID: 33222230
Hypotrichosis simplex (HS) is a rare form of hereditary alopecia caused by a variety of genetic mutations. ...
Hypotrichosis simplex (HS) is a rare form of hereditary alopecia caused by a variety of genetic mutations. ...
A sporadic case of congenital hypotrichosis simplex of the scalp: difficulties in diagnosis and classification.
Cambiaghi S, Barbareschi M. Cambiaghi S, et al. Pediatr Dermatol. 1999 Jul-Aug;16(4):301-4. doi: 10.1046/j.1525-1470.1999.00079.x. Pediatr Dermatol. 1999. PMID: 10469417
Hereditary hypotrichosis simplex of the scalp is a genotrichosis characterized by a hair defect limited to the scalp in the absence of other ectodermal or systemic abnormalities. ...In this article the clinical and scanning electron microscopy findings of a nonfamil …
Hereditary hypotrichosis simplex of the scalp is a genotrichosis characterized by a hair defect limited to the scalp in the ab …
Novel blended SNRPE-related spliceosomopathy phenotype characterized by microcephaly and congenital atrichia.
Amudhavalli SM, Paolillo V, Lawson C, Patterson M, Kussmann J, Nopper AJ, Lypka M, Saunders C. Amudhavalli SM, et al. Am J Med Genet A. 2023 May;191(5):1425-1429. doi: 10.1002/ajmg.a.63149. Epub 2023 Feb 22. Am J Med Genet A. 2023. PMID: 36814386
Heterozygous variants in SNRPE have been reported in six families with isolated hypotrichosis simplex in addition to one case of isolated non syndromic congenital microcephaly. ...
Heterozygous variants in SNRPE have been reported in six families with isolated hypotrichosis simplex in addition to one case …
Hereditary hypotrichosis simplex of the scalp.
Rodríguez Díaz E, Fernández Blasco G, Martín Pascual A, Armijo M. Rodríguez Díaz E, et al. Dermatology. 1995;191(2):139-41. doi: 10.1159/000246532. Dermatology. 1995. PMID: 8520061
Clinical, genetic, histological and ultrastructural aspects led to a diagnosis of hereditary hypotrichosis simplex of the scalp (Toribio-Quinones type)....
Clinical, genetic, histological and ultrastructural aspects led to a diagnosis of hereditary hypotrichosis simplex of the scal …
Contiguous gene syndrome of holoprosencephaly and hypotrichosis simplex: association with an 18p11.3 deletion.
Kantaputra PN, Limwongse C, Tochareontanaphol C, Mutirangura A, Mevatee U, Praphanphoj V. Kantaputra PN, et al. Am J Med Genet A. 2006 Dec 1;140(23):2598-602. doi: 10.1002/ajmg.a.31386. Am J Med Genet A. 2006. PMID: 17001671
The constellation of anomalies appears to represent a contiguous gene syndrome caused, at least in part, by deletion of TGIF and the gene responsible for hereditary hypotrichosis simplex. The phenotype of our patient differs other reported patients with del(18p). .. …
The constellation of anomalies appears to represent a contiguous gene syndrome caused, at least in part, by deletion of TGIF and the gene re …
12 results