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This case report presents a rare subtype of hypomyelinating leukodystrophy linked to a PYCR2 gene mutation, emphasizing exome sequencing's value in diagnosing undiagnosed childhood HLDs with atypical symptoms.

In this case study, a 78-year-old Japanese woman with Cronkhite-Canada syndrome experienced mesenteric lymphadenopathy, which reduced in size after treatment with the corticosteroid prednisolone. This suggests that mesenteric lymphadenopathy, though uncommon in CCS, may respond to steroid therapy.

This letter discusses how differentiating features in clinical and radiological findings can help distinguish pulmonary Langerhans cell histiocytosis and Birt-Hogg-Dube syndrome from lymphangioleiomyomatosis, noting overlapping symptoms but specific distinctive traits.

This study explored the relationship between BMI percentiles and clinical severity in pediatric patients with different hemoglobin genotypes, finding significant BMI differences and associations with pain frequency, particularly noting that patients with HbSS experienced more pain than those with HbSC.

This study showed that exosomes from hyaluronic acid-primed induced mesenchymal stem cells promote hair growth by enhancing proliferation and migration of hair follicle dermal papilla cells and modulating key growth factors and signaling pathways, potentially counteracting the effects of DHT-induced hair loss.

This study reports that in systemic sclerosis, CD34+ dermal fibroblasts transition to CD34−, podoplanin+, and CD90+ fibroblasts across the dermis, suggesting a role in unchecked fibrosis.

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.

In this case study, DDS treatment for LABD was complicated by hemolytic anemia and alopecia, suggesting the need for careful monitoring of these potential side effects.

This study reported that an HS-associated NCSTN mutation in iPSC-derived skin organoids led to altered hair follicle stem cell differentiation and increased expression of proteins linked to HS inflammation.

This study found that a dopamine-methacrylated hyaluronic acid hydrogel enhances the efficacy of adipose-derived stem cells in promoting skin regeneration, potentially involving the Notch signaling pathway.

In liver cancer cells, this study found that upregulating hsa_circ_0002980 inhibits cell proliferation, metastasis, and EMT by modulating the miR-1303/CADM2 axis, suggesting it as a potential therapeutic target.

This report describes a 27-year-old patient with Ehler-Danlos syndrome who also presented with hypophosphatasia and mastocytosis, and suggests enzyme replacement therapy might alleviate symptoms in such overlapping genetic conditions.

This study found that cortisone reductase deficiency is caused by inactivating mutations in the H6PD gene, affecting cortisol metabolism by preventing 11β-HSD1 enzyme function.

This article describes a 10-month-old female with congenital smooth muscle hamartoma, highlighting the importance of differential diagnosis in congenital skin lesions due to potential malignancy risks.

This study found that the peptides RMYYY and VMYMI displayed stronger binding energy and more frequent interactions with HPGDS compared to the native inhibitor, suggesting potential as future therapeutic drugs.

This pilot clinical study introduces DEC cells as a novel therapy for Duchenne muscular dystrophy, confirming safety and efficacy in seven patients up to 24 months post-treatment.

In this clinical case study, a 30-year-old man with systemic lupus erythematosus was diagnosed with both catastrophic antiphospholipid syndrome and acquired haemophilia A, successfully treated with immunosuppressive therapy, plasma exchange, and IVIG, leading to a favourable outcome.

This article reports on a patient case of Cronkhite-Canada syndrome, detailing symptoms and diagnostic findings, and reviews the syndrome's characteristics without presenting new clinical data.

This study found that pediatric HSCT recipients, especially those with chronic graft-versus-host disease, are at risk for developing various nonmalignant late cutaneous changes such as vitiligo, psoriasis, alopecia, and nail changes.

This study found that CMV infection in a mouse model of allogeneic transplantation was associated with increased allo-reactive T cell expansion and exacerbated graft-versus-host disease, highlighting the need for effective GvHD prophylaxis and treatment.

This study found that combining hair follicle-derived smooth muscle cells with a natural biomaterial created vascular constructs with mechanical and functional properties similar to native arteries, suggesting potential for arterial implantation.

Patients often experience long-lasting changes to their hair after stem cell transplants.

This case report describes a 19-year-old patient with systemic lupus and a composite heterozygosis SC with thalassemic component, highlighting the diagnostic challenge when symptoms of both conditions occur simultaneously.

This systematic review identified robust biomarkers associated with hidradenitis suppurativa and confirmed potential drugs for repurposing, highlighting key pathogenetic pathways and their links to comorbid disorders.

In this study, single-cell RNA sequencing of hair follicle populations from hidradenitis suppurativa patients identified three endotypes, suggesting distinct epithelial-immune interactions that may guide stratified therapeutic approaches.

This study found that injecting hepatocyte growth factor-enhanced hair follicle stem cells into a rat model of ischemic stroke improved recovery by reducing inflammation, protecting the blood-brain barrier, and promoting angiogenesis.

PRO-C22 can help diagnose and monitor the severity of hidradenitis suppurativa.

This study found that mesenchymal stem cells from chronically inflamed human livers maintain their key cellular characteristics, supporting their potential use in developing liver cell therapies.

This case report describes a patient developing hidradenitis suppurativa-like lesions after undergoing gamma secretase complex inhibitor therapy for desmoid tumours, illustrating potential skin toxicity linked to the treatment.