Search

everythingexperts & clinicslearnfaqsresearchcommunity

for

Search:↓

A 6-year-old boy developed excessive hair growth after taking diazoxide for low blood sugar.

Carbamazepine may cause reversible nail detachment.

This study identified intramembrane proteolysis as a key feature of Astrotactin2 maturation, providing insights into its role in planar cell polarity hair patterning.

This study identified a novel splice-site variant of the LAMB3 gene that may cause junctional epidermolysis bullosa, suggesting gene sequencing is essential for accurate diagnosis.

This study found that a patient with giant axonal degeneration had unique hair abnormalities such as trichorrhexis nodosa and altered S:N ratios, unlike her relatives but comparable to unrelated controls.

This review discusses the shared molecular and cellular processes in the early development stages of skin appendages like hair follicles, teeth, and mammary glands, reporting no new results.

This article reports a case of trichothiodystrophy in a 7-year-old girl with sulfur deficiency in her hair, characterized by sparse, slow-growing hair and distinctive tiger tail banding under microscopy.

In this study, researchers observed that testicular 17β-hydroxysteroid dehydrogenase deficiency in an inbred Arab population in Israel leads to genital ambiguity at birth and progressive virilization after puberty.

This case report highlights a 7-year-old boy with suspected Netherton syndrome who presented with itchy lesions, hair abnormalities, and elevated immunoglobulin E levels. The authors report complete resolution of symptoms with oral Acitretin after failed methotrexate treatment.

In this case report, researchers observed a Slovakian neonate with a rare EGFR genetic mutation who presented with severe neonatal dermatoses, ichthyosis, and multisystem complications, emphasizing the significance of genetic diagnosis for such complex conditions.

This paper presents a case of penile tourniquet syndrome in an 8-year-old boy caused by his mother's hair coil, highlighting its rarity beyond infancy.

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 study reports two siblings with severe combined immunodeficiency due to a mutation in the FOXN1 gene, characterized by T-cell immunodeficiency, alopecia totalis, and nail dystrophy.

In this case report, the authors suggest that a novel enhancer element's translocation near the TRPS1 gene may contribute to the TRPS phenotype, expanding understanding of the syndrome's genetic basis.

In this case report, researchers identified a novel homozygous missense mutation in the MBTPS2 gene associated with the mild form of IFAP syndrome in a 7-year-old boy.

This report describes four cases of monilethrix in children and concludes that periodic inhibition of keratin synthesis, not a metabolic defect, may explain the hair abnormality.

This case report describes a patient who developed localized hypertrichosis of the pinnae after undergoing orchiectomy and chemotherapy for testicular carcinoma.

This study found that most hair shaft abnormalities can be accurately diagnosed using a handheld dermoscope in a clinical setting.

This case report highlights the clinical and trichoscopic diagnosis of congenital triangular alopecia in a 9-month-old boy and notes the condition's typical unresponsiveness to traditional treatments.

This study identified chemokine receptor ligands cxcl10 and cxcl11 as new hair-specific transcriptional targets of the Eda pathway, suggesting chemokine signaling plays a role in primary hair follicle patterning.

Genetic defects in the Wnt/PCP pathway may cause congenital yellow nail syndrome.

This case study highlights that RDEB-mitis can be misdiagnosed in older adults, emphasizing the importance of accurate diagnosis as it does not require immunosuppressive treatment.

This case report describes an eight-year-old Kashmiri boy diagnosed with monilethrix, a rare genetic hair disorder, characterized by a beaded appearance and fragility of the hair shaft.

This study explains that while trichothiodystrophy and xeroderma pigmentosum share genetic defects, TTD patients primarily exhibit issues in transcription initiation, not the increased skin cancer risk seen in XP.

This study observed defects in hair cuticle cross-linking in some, but not all, mouse mutants with sparse or structurally unsound hair.

This study found that cupric chloride treatment may partially correct delayed maturation and abnormal arborization of Purkinje cells in the cerebellum of hemizygous brindled mice, a model for Kinky hair disease.

Pili annulati is caused by a protein metabolism disorder affecting hair structure.

This case report describes a 47-year-old man with a persistent erythematous scaly plaque on his left lower eyelid, unresponsive to conservative treatment, later diagnosed through biopsy.