February 2026 in “Frontiers in Medicine” In this case report, a three-generation family with Gorlin-Goltz syndrome showed a heterozygous PTCH1 splice-donor variant associated with the disease, and two affected relatives benefited from individualized, side-effect-guided dosing of the drug sonidegib, experiencing regression of basal cell carcinoma lesions.
April 2018 in “Journal of Investigative Dermatology” This study found that ERBB2 mutations and amplifications are likely key drivers of extramammary Paget disease, suggesting potential for targeted therapies and cancer immunotherapy due to the moderately high mutational load observed.
1 citations
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September 2011 in “Journal of Dermatology” This letter reports a woman with nevoid basal carcinoma syndrome and pronounced androgenic alopecia associated with a novel PTCH gene mutation p.Leu1159fsx32, suggesting a genetic link in this case study.
September 2025 in “American Journal of Dermatopathology” In this research, most cases of mammary and extramammary Paget disease were reported to express PRAME, expanding the understanding of its presence in cutaneous epithelial tumors, though its diagnostic utility is limited by overlap with other conditions.
1 citations
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August 2023 in “Journal of cutaneous pathology” This case report describes an 8 cm giant pilomatricoma on a 67-year-old man's scalp, revealing distinct transcriptional patterns related to hair follicle factors and keratin through spatial gene expression analysis.
1 citations
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January 2022 in “Journal of veterinary diagnostic investigation” This case report documented a novel presentation of a canine viral plaque appearing as a solitary exophytic keratin-filled mass, highlighting the need to differentiate it from a hair follicle tumor.
November 2021 in “CRC Press eBooks” This article reviews the characteristics and presentation of fibrosing alopecia in a pattern distribution, a form of scarring alopecia similar to androgenetic alopecia and lichen planopilaris, but provides no new clinical findings.
December 2024 in “Indian Journal of Veterinary Public Health” This study focused on equine sarcoid, the most common tumor in horses, and described its types, clinical signs, and histopathological characteristics such as hyperkeratosis and changes in the hair follicle and dermis.
March 2022 in “Folia Medica Indonesiana” This case report described a facial hairline tumor initially diagnosed as a sebaceous cyst but ultimately confirmed as a rare Proliferating Pilar Tumor with focal malignancies upon histopathological examination.
1 citations
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September 2018 in “Australasian Journal of Dermatology” In this report, a 2-year-old male with GAPO syndrome exhibited androgenetic-like alopecia with normal testosterone levels and telogen hair loss, which are novel findings for this condition.
February 2025 in “Archives of Dermatological Research” This study observed that fibrosing alopecia in a pattern distribution shows varied histological features and may resemble lichen planopilaris with initial diffuse distribution, potentially leading to scarring alopecia.
December 2024 in “Annals of Medicine and Surgery” Early diagnosis of pseudopelade of Brocq in men is crucial to prevent permanent hair loss.
April 2012 in “Informa Healthcare eBooks” Fibrosing alopecia in a pattern distribution is a unique hair loss condition with inflammation and scarring, resembling but distinct from common balding.
March 2022 in “JAAD case reports” A man had a non-cancerous, fast-growing skin lump on his arm that was removed with surgery.
6 citations
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December 2013 in “Journal of Cutaneous Pathology” This study found that the distribution of mast cell prostaglandin d-synthase in the scalp spatially aligns with the pattern of androgenetic alopecia, suggesting a programmed vulnerability to hair loss.
9 citations
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July 2010 in “British Journal of Dermatology” This article reports on lentiginosis observed within plaques of linear atrophoderma of Moulin and discusses its potential classification as a twin-spotting phenomenon but provides no new clinical research results.
April 2026 in “Human Genome Variation” In this study, researchers identified a recurrent MBTPS2 splice-site variant as a mutational hotspot in IFAP syndrome across diverse families, with phenotype severity suggesting the influence of additional modifiers.
September 2021 in “CRC Press eBooks” This review discusses fibrosing alopecia in a pattern distribution and highlights diagnostic features, but reports no new clinical results; the authors emphasize the value of trichoscopy and histology in diagnosis.
1 citations
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January 2018 in “Acta dermato-venereologica” A teenager's hair with alternating white and dark bands, known as Pili annulati, is a genetic condition that is usually harmless and often considered attractive.
January 2009 in “China Practical Medicine” This study found that several genes, including capping protein, palladin, VEGF, and HSPC-related clones, might cooperatively influence the aggregation, proliferation, and cycle control of dermal papilla cells, potentially affecting hair follicle behavior.
March 2026 in “Dermatopathology” In this case report, a rare instance of a primary cutaneous granular cell tumor with prominent overlying terminal hair growth in an adult is described, highlighting the importance of recognizing atypical presentations to accurately diagnose similar uncommon neoplasms.
January 2025 in “Haematology International Journal” This study describes a functional disorder in the ovary, known as stromal hyperplasia, characterized by the proliferation of ovarian stroma and luteinization of stromal cells, which is linked to excessive androgen production and elevated testosterone levels.
1 citations
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November 2022 in “Diagnostics” This case report identifies a 32-year-old woman with undiagnosed PHPT-1a who exhibited complete pseudo-anodontia and persistent patchy alopecia areata, suggesting these may be new nonclassical features of a GNAS pathogenic variant.
April 2023 in “Journal of Investigative Dermatology” This study found that in a mouse model of Gorlin syndrome, constitutive activation of signaling in dermal cells led to abnormal follicular growth, indicating non-epidermal factors may contribute to the disease.
April 2017 in “Journal of Investigative Dermatology” This case study reports that a heterozygous missense GJA1 mutation, p.Gly138Ser, in a 2-year-old boy with oculodentodigital syndrome primarily resulted in syndactyly, fifth finger hypoplasia, and hypotrichosis, without neurological or craniofacial abnormalities.
July 1997 in “Clinical Orthopaedics and Related Research” This case report describes a 26-year-old woman with a giant cell tumor in the left proximal fibula, presenting atypically alongside pseudopseudohypoparathyroidism features, which remain rare in such contexts.
March 2025 in “International Journal of Trichology” This case report describes the first observed instance of fibrosing alopecia in a pattern distribution in a child, suggesting the condition is not solely androgen dependent.
1 citations
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April 2018 in “Journal of Investigative Dermatology” The Trichodysplasia spinulosa virus protein can cause abnormal hair growth in mice.
March 2023 in “Journal of Cosmetic Dermatology” This case report illustrates that fibrosing alopecia in a pattern distribution may be misdiagnosed as androgenetic alopecia due to similar hair loss patterns, but distinctive trichoscopic and histopathologic features help differentiate it.
9 citations
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August 2014 in “The Journal of Dermatology” This study found that clinically non-affected perilesional scalp in Japanese alopecia patients often showed microscopic abnormalities, which may help in assessing the spread of disease activities.