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Introduction: Soon after birth, the clinical differential diagnosis between sebaceous of Jadassohn (NSJ), congenital triangular alopecia (CTA) and aplasia cutis congenita (ACC) may be challenging. A certain overlap of standard dermoscopic features can occur, especially in atypical cases, depending on scalp skin morphology and maturation age. The recently developed line-field confocal optical coherence tomography (LC-OCT) can provide morphological skin details with cellular resolution trough a rapid non-invasive examination.
Objectives: To assess the LC-OCT features of 6 cases of congenital alopecia of different aetiologies, with both typical and atypical clinical appearance.
Methods: A non-invasive imaging examination combining standard dermoscopy, high-resolution videodermoscopy (HRVD) and LC-OCT was realized in 7 babies presenting for congenital alopecia with overlapping features, aged between 5 months and 5 years.
Results: Based on the specific LC-OCT features, and supported by HRVD features, a diagnosis of NSJ, congenital triangular alopecia (CTA) and AC) were made in 4, 2 and 1 case, respectively.
Conclusions: The combined LC-OCT plus HRVD non-invasive imaging bring the advantage to have a real time diagnosis, to set the proper management and allows to avoid a skin biopsy in the perinatal age/first years of life at delicate skin site.
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http://dx.doi.org/10.5826/dpc.1403a142 | DOI Listing |
Am J Med Genet A
August 2025
Department of Pediatrics, University of New Mexico, Albuquerque, NM, USA.
We report two female siblings, a 13-month-old and a newborn, with multiple anomalies including hypoplastic kidneys, severe growth restriction, facial dysmorphism, and alopecia, both found to be homozygous for the c.587 T>C variant in ZPR1. Their clinical features are strikingly similar to those previously reported in a patient who was homozygous for the same variant.
View Article and Find Full Text PDFJ Dermatol
June 2025
Genetic Skin Disease Center, Jiangsu Key Laboratory of Molecular Biology for Skin Diseases and STIs, Institute of Dermatology, Chinese Academy of Medical Sciences and Peking Union Medical College, Nanjing, Jiangsu, China.
Congenital alopecia/hypotrichosis constitutes a spectrum of rare inherited hair disorders characterized by partial to complete alopecia and possible structural hair shaft defects. The lanosterol synthase (LSS) gene, implicated in cholesterol biosynthesis, has emerged as a novel genetic determinant of congenital hypotrichosis. This article describes a 43-year-old female with congenital lanugo-like scalp hair and absence of eyebrows who later developed painful fibrotic constrictive bands on her fingers, culminating in pseudoainhum, but without manifestations of typical palmoplantar keratoderma (PPK).
View Article and Find Full Text PDFPediatr Dermatol
April 2025
Department of Dermatology, Graduate School of Medicine, Osaka Metropolitan University, Osaka, Japan.
Congenital alopecia areata is a rare and diagnostically challenging disease. Histopathological findings are helpful for diagnosis; however, patients and their guardians might be reluctant to give consent for skin biopsies due to their concern about the invasiveness of the procedure and potential scar formation at biopsy sites. Herein, we report a case of congenital alopecia areata in which a biopsy procedure was essential for the final diagnosis, even though clinical and trichoscopic findings were suggestive of the condition.
View Article and Find Full Text PDFBMJ Case Rep
December 2024
Neonatology, All India Institute of Medical Science - Bhopal, Bhopal, Madhya Pradesh, India
Vet Dermatol
April 2025
IVC Evidensia Referral Hospital, EDZ Arnhem, Arnhem, the Netherlands.
Background: Alopecia X (AX) is a common noninflammatory alopecic condition of Pomeranian dogs with an unknown cause. While a genetic aetiology is suspected, no current tests can predict the development of this disorder or confirm the aetiology. Therefore, identifying potential risk indicators for the development of AX would be of value in this breed.
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