research Menkes Syndrome Presenting as Myoclonic Seizures: Neuroimaging and EEG Observations
An 11-month-old boy with Menkes disease had severe brain shrinkage and abnormal blood vessels, and didn't respond well to treatment.
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390-420 / 1000+ results research Abnormalities in the hair morphology of patients with some but not all types of mucopolysaccharidoses
Certain types of mucopolysaccharidoses cause significant hair abnormalities.
research Scleromyxedema with neurologic involvement: Therapy with intravenous immunoglobulin
Umbilical cord blood transplantation improved the boy's symptoms despite complications.
research Localization and Expression of Cornifin-α/SPRR1 in Mouse Epidermis, Anagen Follicles, and Skin Neoplasms
research Heterozygous COL5A1 deletion in a cat with classical Ehlers–Danlos syndrome
A cat's poor wound healing was linked to a genetic deletion in the COL5A1 gene.
research 329 In vitro co-culture models of merkel cell-neurite complex in touch domes
The study concluded that the developed models are effective for studying hair growth mechanisms and testing new treatments.
research Expression of Desmoglein 1 Compensates for Genetic Loss of Desmoglein 3 in Keratinocyte Adhesion
Desmoglein 1 can partly make up for the loss of Desmoglein 3 in hair adhesion but not in mucous membranes.
research Erosive pustular dermatosis of the scalp due to EGFR inhibitors: A multicentric study by EADV task force of ‘Dermatology for Cancer Patients’
Erosive pustular dermatosis of the scalp can occur about 17 weeks after starting EGFR inhibitors, and early minocycline may help manage it.
research P7 p63, K14 and p53 expression in epithelial layers of tumor-distant oral mucosa in patients with oral squamous cell carcinoma
research Proteomics Characterization of Primary Human Oral Epithelial Cells Using a Novel Culture Technique for Use in Tissue Regeneration
ePUKs could be valuable for regenerative medicine due to their wound healing abilities.
research Cellular Senescence and Aging in Myotonic Dystrophy
Myotonic Dystrophy may age cells faster, and drugs that target aging could be potential treatments.
research Proliferating trichilemmal cyst with histological malignant transformation: Identification of hair sheath keratins in the tumor.
A hair cyst can become cancerous, showing specific keratins from the hair sheath.
research Porokeratotic eccrine and hair follicle nevus: a report of two cases and review of the literature
Porokeratotic eccrine and hair follicle nevus is a very rare skin disorder possibly caused by a GJB2 gene mutation.
research LRIG1 is a positive prognostic marker in Merkel cell carcinoma and Merkel cell carcinoma expresses epithelial stem cell markers
LRIG1 is linked to better survival in Merkel cell carcinoma.
research Evaluation of dry eye parameters and meibomian gland function using the Lipiscan system in male androgenetic alopecia patients
Men with androgenetic alopecia may have more severe dry eye and meibomian gland dysfunction.
research Clinical, histopathological and immunological characteristics of exfoliative cutaneous lupus erythematosus in 25 German short‐haired pointers
A disease causing skin issues in young adult German short-haired pointers is hereditary, with most affected dogs not responding to treatment.
research A Case of Cutaneous Focal Mucinosis With Follicular Induction
A man with a skin nodule was diagnosed with a rare skin condition called cutaneous focal mucinosis, which can be confused with other skin cancers.
research Dermal EZH2 orchestrates dermal differentiation and epidermal proliferation during murine skin development
Dermal EZH2 controls skin cell development and hair growth in mice.
research Murine Epidermal Ceramide Synthase 4 Is a Key Regulator of Skin Barrier Homeostasis
Ceramide Synthase 4 is crucial for healthy skin barrier function.
research Síndrome dos cabelos anágenos frouxos associada à distrofia macular: descrição de uma família
Some family members had a condition with both loose hair and unique eye changes, possibly indicating a new type of ectodermal dysplasia.
research PA05 A rare case of cardiocutaneous syndrome in a young child
A child with skin and tooth symptoms was found to have a genetic mutation causing cardiocutaneous syndrome, leading to heart problems.
research KERATIN 17-related recessive atypical pachyonychia congenita with variable hair and tooth anomalies
A new type of pachyonychia congenita linked to a specific keratin gene mutation was found in two Pakistani families.
research The role of Glucosylceramides in Keratinocyte Differentiation and Epidermal Barrier Function
Glucosylceramides are essential for healthy skin and proper wound healing.
research Heterozygous deletion of the NSDHL gene in an Appenzeller Mountain Dog with verrucous epidermal keratinocytic nevi
A genetic defect in an Appenzeller Mountain Dog caused skin issues, improved with ketoconazole, showing the importance of advanced genetic testing.
research P‐35 Nonlethal junctional epidermolysis bullosa in a dog
A dog with a hereditary skin condition causing blisters and hair loss survived for a year.
research A Spontaneous Fatp4/Scl27a4 Splice Site Mutation in a New Murine Model for Congenital Ichthyosis
A gene mutation in mice causes severe skin disorder similar to a human condition.
research Novel Mutations in X-Linked Dominant Chondrodysplasia Punctata (CDPX2)
New mutations in the EBP gene cause CDPX2, affecting bones, skin, eyes, and hair, with females generally less affected than males.
research Widespread and eruptive comedonal lesions with alopecia
A man with skin and hair symptoms improved partially with specific treatment.
research Abstract 5219: The role of MEK and Antizyme in keratinocyte stem cell expansion and differentiation
Antizyme reduces tumor growth and normalizes skin cell development affected by MEK.
research Inducible cre-mediated N-ras activation and PTEN inactivation in transgenic mouse melanocytes requires keratinocyte hyperplasia to elicit a melanocyte pathology
Melanocyte pathology requires keratinocyte hyperplasia and regulation dysfunction.