21 citations
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April 2000 in “Journal of Cutaneous Pathology” This case report describes a 22-year-old woman with a nevoid plaque termed localized follicular hamartoma, characterized by skin-colored papules and specific cellular and structural features.
7 citations
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November 2011 in “Skin Research and Technology” The authors observed that the patterned melanoderma on the hairless scalp of fair-skinned Caucasian men with androgenic alopecia resembled similar patterns seen on facial skin.
This case report describes perifollicular melanocyte regeneration in the affected skin of a patient with bullous pemphigoid, highlighting an underreported aspect of the condition in skin of color patients, and emphasizing the need for increased awareness and earlier diagnosis in this demographic.
June 2001 in “European Journal of Dermatology” This case study describes a 54-year-old woman with a rare pattern of asymmetrical hair loss resembling androgenetic alopecia, alongside sparse body hair and near absence of eyebrows and eyelashes, while other ectodermal features were normal.
June 2023 in “Pediatric investigation” This case report describes a 7-year-old boy with pityriasis versicolor presenting as scalp hypopigmentation, a rare distribution for this fungal infection. Diagnosis was confirmed via Wood's lamp examination and microscopy, and the condition resolved after treatment with topical terbinafine hydrochloride cream.
July 2025 in “Pigment International” This case report highlights a 40-year-old Indian male diagnosed with follicular vitiligo, presenting as graying hair and depigmented patches, and emphasizes the importance of distinguishing this rare variant from similar conditions like alopecia areata due to its unique presentation.
5 citations
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September 1986 in “Pediatric Dermatology” This study reported a previously undescribed form of hereditary hypotrichosis in a family, characterized by childhood-onset hair loss, morphea, and probable autosomal dominant inheritance.
26 citations
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October 1998 in “Experimental Dermatology” This study describes a co-dominant E410D mutation in keratin hHb6 associated with severe hair loss and extensive papules in homozygous individuals, with variable expression in heterozygous family members.
January 2026 in “Cosmoderma” In this clinical case study, a 9-year-old girl was diagnosed with monilethrix, a hereditary hair shaft disorder characterized by weak, beaded hair, with management focusing on minimizing hair trauma.
2 citations
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June 2019 in “The Journal of Dermatology” This report describes two cases of aplasia cutis congenita with hair collar signs and hemangioma, which may suggest neural tube defects, although imaging showed no bone or neural tissue abnormalities.
June 2025 in “British Journal of Dermatology” In this report, two cases of melanocytic matricoma, a rare benign hair follicle lesion that mimics melanoma and basal cell carcinoma, were described and successfully treated with complete surgical excision. Histological analysis was crucial for differentiation from similar malignant lesions.
October 1967 in “Archives of Dermatology” This report discusses a case of an intradermal nevus in a 42-year-old woman and provides no clinical findings beyond a biopsy showing hyperkeratosis and cellular pigmentary changes.
74 citations
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January 2006 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified novel compound heterozygous mutations in the DSG4 gene in a Japanese patient with congenital hypotrichosis, suggesting overlap between localized autosomal recessive hypotrichosis and monilethrix.
175 citations
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August 1997 in “Nature Genetics” 1 citations
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December 2024 in “Case Reports in Dermatology” In this case study, the researchers reported a rare incidence of bilateral hyperpigmented macules on a patient's lower legs, possibly due to cyclophosphamide, suggesting that this chemotherapy drug may directly stimulate hair follicles to cause skin discoloration.
23 citations
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January 1964 in “Archives of Dermatology” This report describes a child with ulerythema ophryogenes marked by eyebrow hair absence and progressive skin atrophy, whose condition did not improve despite elevated vitamin A levels via injections.
1 citations
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January 2018 in “Jornal Brasileiro de Patologia e Medicina Laboratorial” This case report describes a 10-year-old girl with monilethrix, detailing hereditary autosomal dominant traits and distinctive nodular hair shaft abnormalities observed in her family through clinical examination and microscopic analysis.
13 citations
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July 2004 in “Pediatric dermatology” This case study describes a 9-year-old boy with monilethrix and associated abnormalities, suggesting a new, severe autosomal recessive variant termed "monilethrix syndrome.
February 2022 in “Authorea (Authorea)” This report presents a case of a seven-year-old girl with porokeratotic adnexal ostial nevus manifesting as hyperkeratotic verrucous papules on her left foot.
9 citations
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June 2017 in “The American journal of dermatopathology/American journal of dermatopathology” This study examined skin biopsies from a woman with Addison disease and found melanocytic hyperpigmentation in the epidermis, with a notable melanocyte/keratinocyte ratio indicating increased melanocyte presence in the arm compared to the thigh.
1 citations
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March 2024 in “Ophthalmic Plastic and Reconstructive Surgery” In this case study, a 34-year-old woman with a rare presentation of pilomatrixoma involving alopecia and skin hypopigmentation showed no improvement in these symptoms despite a 3-month trial of topical steroid treatment, highlighting a potential association between pilomatrixoma and microinflammation.
17 citations
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July 1984 in “British journal of dermatology/British journal of dermatology, Supplement” This study describes a distinctive form of ichthyosis characterized by abnormal epidermal differentiation mainly within hair follicles in four patients with congenital follicular hyperkeratosis.
September 2016 in “Journal of The American Academy of Dermatology” This case study identified the condition as Monilethrix in a 17-year-old female, characterized by a beaded hair appearance and linked to a genetic cause.
January 2025 in “International Journal of Dermatology” This case report describes a patient with eruptive tumor of follicular infundibulum, emphasizing the need for dermatologists to include it in the differential diagnosis of acquired facial hypopigmentation.
4 citations
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January 2011 in “European journal of dermatology/EJD. European journal of dermatology” This article provides an overview of lipedematous scalp, a rare condition characterized by a thickened scalp without hair loss, and emphasizes the need for further research due to limited case reports.
20 citations
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November 2004 in “Archives of Pathology & Laboratory Medicine” This case report describes a rare instance of melanocytic matricoma, a benign pigmented papule found in sun-damaged skin of an elderly individual, highlighting its distinct clinical and pathological features.
30 citations
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August 2005 in “British journal of dermatology/British journal of dermatology, Supplement” This study identified a novel CDH3 mutation associated with sparse hair and pigmentary macular changes in two siblings with hypotrichosis but no visual symptoms.
32 citations
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January 2000 in “Human Heredity” This study found that the mutation Glu402Lys in keratin hHb6 may be associated with monilethrix, and homozygous patients in a consanguineous family exhibited more severe symptoms.
25 citations
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May 1995 in “Journal of the American Academy of Dermatology” This article reports two new cases of erythromelanosis follicularis faciei in women and includes a literature review on this rarely diagnosed condition.
6 citations
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August 2012 in “The Journal of Pediatrics” This case report describes a 12-year-old girl diagnosed with monilethrix, characterized by fragile, beaded hair shafts, with no effective treatment currently available.