Search

everythingexperts & clinicslearnfaqsresearchcommunity

for

Search:↓

This article describes the first documented case of acquired uncombable hair syndrome in a 39-year-old woman, contributing to the understanding of this rare condition.

This case report presents a patient with woolly hair and associated symptoms, including keratosis pilaris, nail dystrophy, increased interdental spaces, and recurrent bullous impetigo, observing a combination not previously reported.

This case report describes a 61-year-old Italian man with a rare, localized variant of junctional epidermolysis bullosa linked to the R795X mutation in the COL17A1 gene, highlighting the importance of precise diagnosis for effective management of rare genetic disorders.

In this case report, a newborn with Conradi-Hünermann-Happle syndrome was diagnosed through early skin biopsy, which revealed unique histopathological features, including dystrophic calcifications, confirming a pathogenic variant in the EBP gene.

This case study highlights the complexity of managing autoimmune polyglandular syndrome type 1, emphasizing the need for thorough clinical history, high suspicion for early diagnosis, and continuous long-term follow-up.

Early diagnosis of hair tourniquet syndrome saved a baby's toe from being lost.

This description of dystrophy hypotrichosis associated with juvenile macular dystrophy provides an overview of this rare disorder characterized by short hair from birth and progressive loss of central vision but reports no new findings.

In this case report, a 6-year-old boy with Netherton syndrome was diagnosed using trichoscopy, which revealed characteristic hair shaft abnormalities such as bamboo, golf tee, and matchstick hairs.

This case report describes a young male with trachyonychia with associated hypertrophic cutaneous lichen planus, reticular oral lichen planus, and nail lichen planus. The diagnosis was aided by dermoscopy and histopathology, highlighting the importance of accurate diagnosis for effective treatment and prognosis.

This article reviews acromegaloid facial appearance syndrome and presents a case in a 57-year-old woman, emphasizing the need for more cases to understand its clinical features and inheritance patterns.

This article reviews the role of LMNA gene mutations, particularly in Hutchinson–Gilford progeria syndrome, but does not report new experimental findings.

This case study reported a neonate of Indian descent with localized hypotrichosis type 1 due to a likely pathogenic deletion in the DSG4 gene, marking the first such case from India.

In this study, researchers identified a recurrent nonsense mutation, c.409C>T (p.Arg137*), in the COL7A1 gene through whole exome sequencing in a family with autosomal recessive dystrophic epidermolysis bullosa, demonstrating the importance of this method for diagnosing genetically complex conditions.

This review discusses pili torti, a rare hair shaft disorder, and reports no new clinical results; it emphasizes the need to investigate underlying conditions in affected individuals.

This article presents a case of Klippel-Trénaunay syndrome with limb hypertrophy, port-wine stains, angiokeratoma, and venous varicosities, but reports no new findings beyond this case description.

This case report describes a 56-year-old male with chronic watery diarrhea, hyperpigmentation, and alopecia, in whom colonoscopy revealed multiple polypoidal lesions from the distal transverse colon to the rectum.

This study identified two novel mutations in the CDH3 gene causing HJMD in a Chinese patient, expanding the genetic and phenotypic understanding of the disorder.

This review discusses the diagnosis and treatment of pityriasis rubra pilaris and reports no new clinical results.

This study identified four novel DSG4 mutations associated with monilethrix in 12 Jewish families, suggesting a recessive inheritance pattern and broader prevalence of DSG4-related hair disorders than previously recognized.

This case report documents the first known instance of FOXN1 duplication linked to congenital hypertrichosis.

This case report describes a patient with pseudopelade affecting both the scalp and beard area, highlighting the unusual presentation of a rare hair disorder.

This case report details a child with a specific TNFAIP3 mutation manifesting as a severe SLE/SS phenotype, expanding the known phenotype for this genetic variant.

This case report highlights the importance of considering pituitary stalk interruption syndrome as a potential diagnosis for patients with short stature, as early detection may allow those affected to achieve normal height.

In this case study, researchers detailed two Saudi cases of the ultra-rare Trichohepatoneurodevelopmental syndrome, identifying pathogenic variants in the CCDC47 gene and reinforcing a strong gene-disease association, which helps clarify the disorder's clinical features and genetic mutations.

This case report presents a rare instance of recurrent ACTH-independent Cushing’s syndrome due to PBMAH, coinciding with the development of a pheochromocytoma, highlighting the need for thorough reevaluation in similar recurring cases.

This case report describes a unique lesion in a 10-month-old girl, characterized by increased eccrine glands and hair follicles, leading to the proposed term "hybrid eccrine gland and hair follicle hamartoma".

This study identified a novel bi-allelic missense variant in the DSC3 gene linked to severe Hypotrichosis with Recurrent Skin Vesicles in a Saudi child, supporting its role in the condition.

This study found that RSPO1 mutations in patients with a 46XX disorder of sexual development contribute to impaired skin integrity and increased risk of squamous cell carcinoma in areas subject to friction.

This study reports a rare case of polyorchidism in a 96-year-old male cadaver, suggesting a new classification based on anatomical and histological findings to aid in accurate diagnosis.