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This case report describes a 27-year-old kidney transplant recipient with end stage renal failure who developed infections and adverse reactions, ultimately resolving with antiviral treatment targeting HHV6.

This phase I study reported that ETC-159, targeting Wnt signalling, showed tolerable safety profiles at doses that inhibit its pathway, though bone turnover markers increased, warranting early and regular monitoring. No tumor responses were observed, but two patients achieved stable disease for several cycles.

This case report describes a 46,XY female patient with a novel homozygous nonsense mutation in the LHCGR gene, highlighting the need for molecular analysis in disorders of sexual development.

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 suggests that the interaction between folliculin and plakophilin-4 (p0071) may play a role in folliculin's tumor suppressor function by regulating RhoA signaling, impacting cell migration and junction formation.

This review discusses the challenges in diagnosing different causes of adult androgen excess and outlines current screening and management strategies but reports no new findings.

This study found that KROX20 is crucial for hair follicle development and epidermal homeostasis, as its deletion in skin epithelial cells led to hair loss and increased epidermal thickness.

This study found that the p.E402K mutation in the KRT86 gene is a hotspot in Chinese patients with monilethrix, and treatment with 5% topical minoxidil significantly improved hair density and quality.

This study suggests that KRTAP2-3 may serve as a novel biomarker to identify cells in the polyaneuploid cancer cell state, which is linked to therapy resistance and poor prognosis in prostate cancer.

This study found that depletion of KRT17 in endometrial cancer reduced cell growth, motility, and angiogenesis, suggesting KRT17 as a potential therapeutic target.

In this retrospective study, the researchers found that infectious dermatologic conditions were most common among renal transplant recipients, with viral warts being the prevalent infectious condition, while increasing age and sex were associated with varying odds of developing different dermatologic issues.

This study investigated Cronkhite-Canada syndrome in ten patients, finding severe taste abnormalities in the anterior tongue linked to tongue papillary atrophy, which improved with treatment. Taste function tests were helpful in evaluating treatment effectiveness for this rare disorder.

This study found that COVID-19 infection disrupts spermatogenesis, alters testicular cell populations, and may impact male fertility by causing long-term changes in testicular function and reduced sperm quality, as observed even in patients who have recovered from the acute phase of the infection.

This review discusses the potential of traditional Chinese medicine to relieve clinical symptoms in cases of CCS and emphasizes the need for further large-scale, long-term studies to verify these effects.

In this study, researchers identified an autosomal dominant mutation (E402K) in exon 7 of the KRT86 gene as a cause of Monilethrix in a large family from Turkey.

In this case report, a 17-year-old male with a specific TRPS1 gene mutation presented with sparse, soft hair, short thumbs and toes, misaligned teeth, and distinctive bone abnormalities in the fingers and toes as observed through X-ray analysis.

This report describes a novel AR gene mutation in a female patient, contributing to androgen insensitivity syndrome, and emphasizes its potential impact on genetic counseling.

This report describes a case where oral valganciclovir treatment led to improved skin texture and hair regrowth in a patient with trichodysplasia spinulosa.

In this study, the CYP 21A2 gene p.V281L mutation was associated with an increased susceptibility to familial frontal fibrosing alopecia, suggesting an antigen-driven mechanism linked to certain human leukocyte antigen haplotypes.

The researchers reported that a child with epilepsy developed encephalopathy after an asymptomatic COVID-19 infection, confirmed by clinical and laboratory assessments showing post-COVID19 effects.

This study identified a new PNPLA1 mutation in a Spanish family with autosomal recessive congenital ichthyosis.

This study describes the diagnosis and successful management of Cronkhite-Canada syndrome in a 78-year-old man, highlighting improvement in symptoms and endoscopic findings after treatment with prednisone and supportive therapies.

Corticosteroids improved symptoms in a man with Cronkhite-Canada Syndrome.

This report details the case of an 11-year-old girl with APECED syndrome carrying a unique homozygous mutation in the AIRE gene, the first of its kind documented.

This case report highlights a novel NR5A1 gene variant associated with a severe 46,XY disorder of sex development, stressing the importance of genetic screening in similar cases.

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

Hair loss in Cronkhite-Canada syndrome may be due to an autoimmune response.

In this case study, administration of prednisolone and Bactrim for a woman with Cronkhite-Canada syndrome led to the cessation of diarrhea, increased serum protein, and improvement in hyperpigmentation and hair regrowth.

In this study, Egyptian nodulocystic acne patients had significantly fewer CAG repeats in their androgen receptor gene compared to controls, which may influence acne development and suggest a role for antiandrogen therapy in treatment strategies.

This case report documents the first confirmed mutation-proved instance of Clouston syndrome in a large Chinese-Malaysian family, linked to the c.263C>T (A88V) mutation in the GJB6 gene, with no available treatment but highlighting the importance of genetic counseling.