research Genomic Analysis of Trichotillomania
Trichotillomania may have a genetic link to psychiatric disorders.
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research Two novel MBTPS2 missense mutations impairing S2P proteolytic activity lead to IFAP syndrome with new phenotypic anomalies
New mutations in MBTPS2 reduce its function and cause IFAP syndrome with unusual symptoms.
research Perspectives of Kennedy's disease
Kennedy's disease leads to muscle weakness and sensory issues, has no cure but manageable symptoms, and future treatments look promising.
research Hair‐thread tourniquet syndrome
A hair strand caused a rare case of limb strangulation in a teenage girl with autism, and the condition is not always linked to child abuse.
research Traumatic Anserine Folliculosis: A Case Report With Review of Differential Diagnosis
Traumatic anserine folliculosis is a harmless skin condition in young males that needs correct diagnosis to avoid unnecessary treatments.
research Trichothiodystrophy -A Case Report-
Trichothiodystrophy causes unusual hair and developmental issues.
research Inhibition of a signaling modality within the gp130 receptor enhances tissue regeneration and mitigates osteoarthritis
Blocking a certain signal in the gp130 receptor can improve tissue healing and lessen osteoarthritis symptoms.
research Dermatopathia pigmentosa reticularis: A report of a case with delayed onset alopecia and onychodystrophy
DPR can cause skin, hair, and nail issues, sometimes appearing later in life.
research Giant folliculosebaceous cystic hamartoma
A 15-year-old boy had a rare skin growth on his buttock.
research Psoriatic onychopachydermoperiostitis: improvement with etanercept
Etanercept improved symptoms of a specific type of psoriatic arthritis in a patient who didn't respond to other treatments.
research Morphological analyses in fragility of pili torti with Björnstad syndrome
Pili torti hair is fragile due to loose keratin filaments and weak disulfide bonds.
research Elkonyxis associated with habit-tic deformity: Two case reports
Elkonyxis, a rare nail condition, improved when patients stopped their nail-picking habits.
research Association of Anti-Signal Recognition Particle Myopathy with Systemic Lupus Erythematosus
Anti-SRP myopathy can be linked to systemic lupus erythematosus and may improve with specific treatment.
research Genetic Defects in Human Pericentrin Are Associated With Severe Insulin Resistance and Diabetes
People with PCNT mutations often develop severe insulin resistance and early-onset diabetes during childhood or adolescence.
research Tricotiodistrofia. Reporte de un caso
A 2-year-old boy was diagnosed with a rare genetic condition causing fragile hair, intellectual issues, and short stature.
research Hair-Thread Tourniquet Syndrome: A Case Report and Literature Review
Hair-thread Tourniquet Syndrome, where hair or thread tightly wraps around a body part, is not rare and requires early detection to prevent serious damage.
research Building Models for Keratin Disorders
Krt16-deficient mice help understand skin disorders like PC and FNEPPK.
research Hypogonadism as a Reversible Cause of Torsades de Pointes in Men
Low testosterone can cause a heart rhythm problem in men, but fixing it can prevent the issue.
research Dermatological problems in the football player
Football players can get many skin conditions from their sport, which need different treatments and can be prevented with good hygiene and protection.
research Congenital insensitivity to pain with anhidrosis and progressing acro-osteolysis: a case report with 7-year follow-up
Early intervention and protective measures are crucial for managing CIPA due to the lack of pain and standard treatment.
research Keratins and skin disease
Keratin mutations cause skin diseases and could lead to new treatments.
research Twenty-Nail Dystrophy Treated with Hydroxychloroquine in a Patient with Alopecia Areata
Hydroxychloroquine effectively treated twenty-nail dystrophy in a patient with alopecia areata.
research Pathogenesis in pili torti: morphological study
Pili torti hair twists due to uneven outer root sheath cell development.
research A Unique Acquired Athletic Dermatologic Condition in a Half Marathon Participant: An Autobiographical Case Report of Sports-Associated Clothing Related Axillary Tangled Clumped Hairs (SCRATCH)
A runner developed tangled armpit hairs from shirt friction, preventable by shaving or wearing smooth shirts.
research Dermatophytosis in sheep due to Trichophyton mentagrophytes; occurrence, haemato-biochemical and pathomorphological changes*
Trichophyton mentagrophytes causes skin issues and nutrient deficiencies in young sheep, especially in winter.
research Scleroderma and L-tryptophan: A possible explanation of the eosinophilia-myalgia syndrome
Taking L-tryptophan supplements might cause a condition similar to scleroderma in some people, which can get better after stopping the supplement and starting corticosteroid therapy.
research Psoriatic Alopecia/Alopecia Areata‐Like Reactions Secondary to Anti‐Tumour Necrosis Factor‐Alpha Therapy
Anti-TNF therapy can cause a rare hair loss condition similar to alopecia areata.
research Decision letter: Smad4 restricts differentiation to promote expansion of satellite cell derived progenitors during skeletal muscle regeneration
Smad4 is crucial for muscle repair, especially in aging, by promoting cell growth over differentiation.
research 1616 Cross-comparison of inflammatory skin disease transcriptomics identifies PTEN as a pathogenic disease classifier in cutaneous lupus erythematosus
PTEN was identified as a specific marker for the skin disease cutaneous lupus erythematosus, and it helps increase the expression of harmful type I interferons.
research Netherton Syndrome Associated with Growth Hormone Deficiency
Growth hormone therapy can improve growth in Netherton syndrome patients with growth hormone deficiency.