research Case report: A novel splice-site mutation of MTX2 gene caused mandibuloacral dysplasia progeroid syndrome: the first report from China and literature review
A new MTX2 gene mutation caused a severe genetic disorder in a young Chinese girl.
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research Demographics and Clinical Characteristics among Patients with Distinct Psychosocial Burden Profiles Related to Vitiligo: Results of a Latent Class Analysis
Vitiligo's impact varies widely, affecting both emotions and social life, not just physical symptoms.
research 9209 Functional Evaluation Of Novel CYP21A2 Variants: Expanding The Genetic Basis Of Non-classic CAH
Certain genetic variants impair enzyme activity, contributing to non-classic congenital adrenal hyperplasia.
research Inherited Epidermolysis Bullosa: A Clinical Case
A 37-year-old male with severe skin and internal issues has a rare inherited skin condition called dystrophic epidermolysis bullosa.
research An Interesting Case of X-linked Hypohidrotic Ectodermal Dysplasia
Recognizing mild or atypical cases of ectodermal dysplasia is crucial for better treatment and future planning.
research Parental Uveitis Influences Offspring With an Increased Susceptibility to the Experimental Autoimmune Uveitis
Parental uveitis increases offspring's risk and severity of autoimmune eye disease.
research A New Heterozygous Variant of c.1225_1227delTTC (p.Phe409del) in Insulin Receptor Gene Associated with Severe Insulin Resistance and Hyperandrogenemia in an Adolescent Female with Type A Severe Insulin Resistance Syndrome
A specific gene variant is linked to severe insulin resistance and hormone imbalance in a teenage girl.
research Novel insights into cardiocutaneous syndromes
Understanding genetics is crucial for treating heart and skin diseases.
research Beyond the usual: a case of acrodermatitis enteropathica clinically resembling erythrokeratoderma variabilis
Increasing zinc intake improved skin and hair symptoms in a rare genetic disorder.
research TREATMENT OF ALOPECIA AREATA
Some treatments can help with hair regrowth in alopecia areata, but results vary and long-term use is often needed without changing the disease's outcome.
research Systemic treatments for alopecia areata: A systematic review
No systemic treatment for alopecia areata has strong evidence of effectiveness.
research Pigmented Casts
Pigmented casts are common in several hair loss conditions and can help diagnose specific types of alopecia.
research Scalp roller therapy in resistant alopecia areata
Scalp Roller therapy helped improve hair growth in patients with hard-to-treat alopecia areata.
research Finasteride-Induced Pseudoporphyria
Finasteride caused blisters on hands and feet.
research Oral Signs of Hematologic Disease
The conclusion is that different blood diseases cause specific oral symptoms and require varied treatments to manage these symptoms and improve patient health.
research Clinical and Physiological Determinants of Restorative Dermopigmentation:
Restorative dermopigmentation improves skin appearance and function by addressing specific skin issues.
research Scaly Papular Lesions
Topical imiquimod is as effective as 5-fluorouracil for treating actinic keratosis, with about a 5% risk of it turning into squamous cell carcinoma.
research Describing the Hair and Related Abnormalities
The document explains hair growth, hair loss types, and other hair-related terms.
research Fixed focal alopecia for 20 years
The man has Temporal Triangular Alopecia, a stable, non-scarring hair loss condition best treated with hair transplantation.
research Association of Dyslipidemia and Androgenetic Alopecia: A Case Control Study
Men with genetic hair loss are more likely to have abnormal blood lipid levels, especially if the hair loss is severe.
research Hair Growth Therapy(ies) for Androgenetic Alopecia
Minoxidil, tretinoin, and finasteride may help hair regrowth in mild to moderate androgenetic alopecia.
research Prevalence of CYP21 mutations and IRS1 variant among women with polycystic ovary syndrome and adrenal androgen excess
Some women with PCOS have CYP21 mutations and IRS1 variants, but these genetic factors are not major contributors to PCOS.
research Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome (APECED) due to AIRET16M mutation in a consanguineous Greek girl
An 11-year-old Greek girl was diagnosed with a rare genetic disorder, highlighting the importance of genetic testing and family history.
research Informàtica i Dret penal: Els delictes relatius a la informàtica
Two new gene mutations cause a rare hair disorder.
research S1:05 Cutaneous lupus subtypes: the tissue response influences the phenotype
research Hereditary vitamin D-resistant rickets in Lebanese patients: the p.R391S and p.H397P variants have different phenotypes
Two different mutations in the vitamin D receptor gene cause different symptoms and responses to treatment in Lebanese patients with hereditary rickets.
research Conjoint analysis of methylation, transcriptomic, and proteomic profiles in pemphigus vulgaris
Changes in genes FGA, VWF, and ACTG1 may contribute to pemphigus vulgaris.
research Monilethrix in monozygotic twins with very rare mutation in KRT 86 gene
Identical twins with a rare KRT 86 gene mutation both have the hair disorder monilethrix.
research Localized Epidermolysis Bullosa Simplex (Weber-Cockayne type)
A 15-year-old girl has a skin condition causing blisters on her feet, likely inherited from her family.
research Decision‐Making Regarding the Administration of Live Vaccines to Patients With a FOXN1 Heterozygous Missense Variant
Live vaccines can be safely given to infants with a FOXN1 variant if their immune function improves over time.