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The following term was not found in PubMed: keratoderma-esophageal
Page 1
Gorlin Syndrome.
Palacios-Álvarez I, González-Sarmiento R, Fernández-López E. Palacios-Álvarez I, et al. Actas Dermosifiliogr (Engl Ed). 2018 Apr;109(3):207-217. doi: 10.1016/j.ad.2017.07.018. Epub 2018 Jan 17. Actas Dermosifiliogr (Engl Ed). 2018. PMID: 29373110 Review. English, Spanish.
Gorlin syndrome is a rare autosomal dominant disease caused by mutations in the sonic hedgehog signaling pathway. ...The disease is characterized by the development of multiple basal cell carcinomas at young ages. These tumors may present with other skin manifestati …
Gorlin syndrome is a rare autosomal dominant disease caused by mutations in the sonic hedgehog signaling pathway. ...The disease is c …
[Genetics of complex and syndromic palmoplantar keratoderma].
Sperelakis-Beedham B, Lopez M, Girodon E, Hickman G, Bourrat E, Bienvenu T. Sperelakis-Beedham B, et al. Ann Biol Clin (Paris). 2021 Dec 1;79(6):551-565. doi: 10.1684/abc.2021.1688. Ann Biol Clin (Paris). 2021. PMID: 34961738 Review. French.
Hereditary PPKs can be classified into 3 groups: 1) isolated non-syndromic PPKs; 2) complex non-syndromic PPKs associated with other ectodermal defects; and 3) syndromic PPKs associated with extracutaneous manifestations. ...This review describes the differen …
Hereditary PPKs can be classified into 3 groups: 1) isolated non-syndromic PPKs; 2) complex non-syndromic PPKs associated with …
Basal cell nevus syndrome: an update on clinical findings.
Fernández LT, Ocampo-Garza SS, Elizondo-Riojas G, Ocampo-Candiani J. Fernández LT, et al. Int J Dermatol. 2022 Sep;61(9):1047-1055. doi: 10.1111/ijd.15884. Epub 2021 Sep 8. Int J Dermatol. 2022. PMID: 34494262 Review.
Basal cell nevus syndrome, also known as Gorlin-Goltz syndrome, is a rare autosomal dominant disorder caused by mutations in the hedgehog signaling pathway, mainly in PTCH1. This pathway is involved in embryogenesis and tumorigenesis, and the loss of function of PTC …
Basal cell nevus syndrome, also known as Gorlin-Goltz syndrome, is a rare autosomal dominant disorder caused by mutations in t …
The R-spondin protein family.
de Lau WB, Snel B, Clevers HC. de Lau WB, et al. Genome Biol. 2012;13(3):242. doi: 10.1186/gb-2012-13-3-242. Genome Biol. 2012. PMID: 22439850 Free PMC article. Review.
In humans, rare disruptions of the gene encoding R-spondin1 cause a syndrome of XX sex reversal (phenotypic male), palmoplantar keratosis (a thickening of the palms and soles caused by excess keratin formation) and predisposition to squamous cell carcinoma of …
In humans, rare disruptions of the gene encoding R-spondin1 cause a syndrome of XX sex reversal (phenotypic male), palmoplantar …
Miscellaneous genodermatoses: Beckwith-Wiedemann syndrome, Birt-Hogg-Dube syndrome, familial atypical multiple mole melanoma syndrome, hereditary tylosis, incontinentia pigmenti, and supernumerary nipples.
Cohen PR, Kurzrock R. Cohen PR, et al. Dermatol Clin. 1995 Jan;13(1):211-29. Dermatol Clin. 1995. PMID: 7712645 Review.
Each of these conditions is associated with an increased incidence of certain tumors: Wilms' tumor, adrenocortical carcinomas, pancreatoblastomas, and hepatoblastomas in Beckwith-Wiedemann syndrome; intraocular malignant melanoma, pancreatic carcinoma, and no …
Each of these conditions is associated with an increased incidence of certain tumors: Wilms' tumor, adrenocortical carcinomas, pancre …
Nevoid basal cell carcinoma syndrome: review of 118 affected individuals.
Shanley S, Ratcliffe J, Hockey A, Haan E, Oley C, Ravine D, Martin N, Wicking C, Chenevix-Trench G. Shanley S, et al. Am J Med Genet. 1994 Apr 15;50(3):282-90. doi: 10.1002/ajmg.1320500312. Am J Med Genet. 1994. PMID: 8042673 Review.
One hundred eighteen cases of nevoid basal cell carcinoma syndrome (NBCCS, Gorlin's syndrome or basal cell nevus syndrome) are presented in this study. ...However, one major difference is that the multiple basal cell carcinomas are manife …
One hundred eighteen cases of nevoid basal cell carcinoma syndrome (NBCCS, Gorlin's syndrome or basal cell nevus …
[Skeletal and dermatological manifestations of the nevoid Basal cell carcinoma syndrome (Gorlin-Goltz syndrome). Results of 8 patients in 12 years].
Rupprecht M, Mensing CH, Barvencik F, Ittrich H, Heiland M, Rueger JM, Amling M, Pogoda P. Rupprecht M, et al. Rofo. 2007 Jun;179(6):618-26. doi: 10.1055/s-2007-963117. Epub 2007 May 9. Rofo. 2007. PMID: 17492539 Review. German.
PURPOSE: In 1960 Gorlin and Goltz defined the nevoid basal cell carcinoma syndrome (NBCCS, Gorlin-Goltz Syndrome) as a syndrome comprising multiple basal cell carcinoma, odontogenic keratocysts, and skeletal anomalies. ...Nevoid basal cell ca …
PURPOSE: In 1960 Gorlin and Goltz defined the nevoid basal cell carcinoma syndrome (NBCCS, Gorlin-Goltz Syndrome) as a …
The cutaneous manifestations of gastrointestinal malignancy.
Schadt CR. Schadt CR. Semin Oncol. 2016 Jun;43(3):341-6. doi: 10.1053/j.seminoncol.2016.02.028. Epub 2016 Feb 23. Semin Oncol. 2016. PMID: 27178686 Review.
In addition, gastrointestinal cancers can metastasize to the skin, as described in the well-known Sister Mary Joseph's nodule. Inflammatory systemic conditions such as dermatomyositis and multicentric reticulohistiocytosis can be associated with underlying malignancy. Fina …
In addition, gastrointestinal cancers can metastasize to the skin, as described in the well-known Sister Mary Joseph's nodule. Inflam …
Novel RSPO1 mutation causing 46,XX testicular disorder of sex development with palmoplantar keratoderma: A review of literature and expansion of clinical phenotype.
Tallapaka K, Venugopal V, Dalal A, Aggarwal S. Tallapaka K, et al. Am J Med Genet A. 2018 Apr;176(4):1006-1010. doi: 10.1002/ajmg.a.38646. Am J Med Genet A. 2018. PMID: 29575617 Review.
Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal (MIM # 610644) is a clinically distinctive form of SRY-negative 46,XX disorder of sex development. ...We report fourth such case with additional findings and perform a comparative revi …
Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal (MIM # 610644) is a clinically distinctive f …
Ocular manifestations of genetic skin disorders.
Jen M, Nallasamy S. Jen M, et al. Clin Dermatol. 2016 Mar-Apr;34(2):242-75. doi: 10.1016/j.clindermatol.2015.11.008. Epub 2015 Dec 2. Clin Dermatol. 2016. PMID: 26903188 Review.
The genodermatoses with ocular manifestations will be reviewed, but neurocutaneous, syndromes, genetic pigmentary disorders, and genetic metabolic diseases are not included because they are covered elsewhere in this issue....
The genodermatoses with ocular manifestations will be reviewed, but neurocutaneous, syndromes, genetic pigmentary disorders, and gene …
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