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It is caused by heterozygous pathogenic variants in the\n                    <jats:italic>SMAD4<\/jats:italic>\n                    gene. In this review, we detail the cutaneous manifestations observed in two previously reported patients with genetically confirmed Myhre syndrome. While skin biopsies demonstrated pan\u2010dermal thickening of collagen bundles, the immunohistochemical staining patterns were distinct from those seen in other inflammatory sclerosing disorders. Additionally, we conducted a comprehensive literature review of the cutaneous features associated with Myhre syndrome, identifying 175 patients with confirmed\n                    <jats:italic>SMAD4<\/jats:italic>\n                    pathogenic variants. The most reported cutaneous finding was thickened or stiff skin (76%), followed by keratosis pilaris (22%) and impaired wound healing or abnormal scarring (18%). Genotype\u2013phenotype analysis suggested a diagnostic delay in patients with the codon 496 variant, who were more frequently diagnosed in adulthood. This variant may also be associated with a milder cutaneous phenotype, highlighting the clinical heterogeneity of Myhre syndrome. These findings underscore the importance of recognizing cutaneous features as potential early diagnostic clues in patients with suspected Myhre syndrome.\n                  <\/jats:p>","DOI":"10.1002\/ajmgc.70005","type":"journal-article","created":{"date-parts":[[2026,2,13]],"date-time":"2026-02-13T03:27:24Z","timestamp":1770953244000},"page":"359-370","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Review of Cutaneous Manifestations in Myhre Syndrome With Histopathological Analyses and Genotype\u2013Phenotype Correlation"],"prefix":"10.1002","volume":"199","author":[{"ORCID":"https:\/\/orcid.org\/0009-0000-6381-6574","authenticated-orcid":false,"given":"Setu","family":"Mittal","sequence":"first","affiliation":[{"name":"Department of Dermatology Mayo Clinic  Rochester Minnesota 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