research P142 – 3046: Encephalocraniocutaneous lipomatosis, a rare neurocutaneous disorder: Report of additional three cases
ECCL should be considered in patients with specific skin and eye lesions.
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690-720 / 1000+ resultsresearch Epidermolysis Bullosa Acquisita Occuring In A Patient With Systemic Lupus Erythematosus
A woman with lupus also developed a severe skin condition linked to a genetic factor.
research Men with Kennedy disease have a reduced risk of androgenetic alopecia
Men with Kennedy disease have less chance of hair loss.
research Distinct Conditions Support a Novel Classification for Bradykinin-Mediated Angio-Oedema
The conclusion suggests a new way to classify bradykinin-mediated angio-oedema based on different causes and its possible link with urticaria, which could improve diagnosis and treatment.
research Unilateral Beau's Lines Associatd with a Fingertip Crushing Injury
A man's crushed thumb caused unusual horizontal nail ridges on all fingers of one hand.
research Netherton Syndrome: A Case-Based Review of Diagnosis, Management, and Emerging Treatments.
Early genetic testing and new therapies like secukinumab are crucial for managing Netherton syndrome effectively.
research Ichthyosis Follicularis With Alopecia and Photophobia
Two boys had a rare skin condition needing to be differentiated from similar disorders, with unclear inheritance due to few cases.
research Postoperative complicated appendectomy revealing Crohn’s disease in a pediatric patient
A 13-year-old boy's appendicitis surgery revealed Crohn's disease, highlighting the need for careful examination to guide treatment.
research 心音図の読み方の基礎 (心電図・心音図の価値と限界(特集))
Lichen spinulosus, usually seen in young people, can rarely occur in adults, as shown by a 52-year-old woman with a rough, bumpy rash.
research Scaling dermatosis in three dogs associated with abnormal sebaceous gland differentiation
Three dogs with a rare skin condition improved with treatment.
research Zinc deficiency or genetic mutations?—A case report of hair heterochromia in the context of MC1R genetic mutations
A boy's hair turned red because of genetic mutations, not lack of zinc.
research Autosomal Recessive Transmission of a Rare KRT74 Variant Causes Hair and Nail Ectodermal Dysplasia: Allelism with Dominant Woolly Hair/Hypotrichosis
A rare gene variant causes hair and nail issues in a family.
research Chronic tophaceous gout secondary to self-induced vomiting in anorexia nervosa
A woman with anorexia developed gout from self-induced vomiting.
research Factors affecting bone maturation in Chinese girls aged 4-8 years with isolated premature thelarche
Higher BMI, IGF-1, and DHEAS levels are linked to advanced bone age in young Chinese girls with early breast development.
research Severe Monilethrix Associated with Intractable Scalp Pruritus, Posterior Subcapsular Cataract, Brachiocephaly, and Distinct Facial Features: A New Variant of Monilethrix Syndrome?
A new severe form of monilethrix syndrome includes hair loss, scalp itching, cataracts, and distinct facial features.
research P378: Expanding the phenotype of hyper-IgE syndrome: Heterozygous VUS in IL6ST with elevated serum IgE and isolated abscesses
A new IL6ST gene variant may cause a unique form of hyper-IgE syndrome with skin abscesses and high IgE levels.
research Clinical and genetic findings in a Chinese family with VDR-associated hereditary vitamin D-resistant rickets
A Chinese family had a child with a specific gene mutation causing vitamin D-resistant rickets, but the child improved with calcium and low-dose calcitriol.
research The Influence of Portocaval Shunting on Inner Ear Structures
PCS rats show significant inner ear damage and zinc deficiency, similar to liver cirrhosis patients.
research No increased risk of alopecia in ankylosing spondylitis patients: A population‐based cohort study in Taiwan
People with ankylosing spondylitis in Taiwan don't have a higher chance of getting alopecia.
research Trichothiodystrophy and fragile hair: the distinction between diagnostic signs and diagnostic labels in childhood hair disease
research TOFACITINIB IN OVERLAPPING AUTOIMMUNE AND AUTOINFLAMMATORY DISORDERS: A CASE REPORT OF A DUAL GRAHAM-LITTLE-PICCARDI-LASSEUR SYNDROME AND HIDRADENITIS SUPPURATIVA
Tofacitinib effectively treated a woman's complex autoimmune and autoinflammatory disorders.
research Follicular ichthyosis
The four patients have a unique type of ichthyosis affecting hair follicles.
research Atrophying scamous papulous dermatitis (Degos disease): Nine years of follow-up
A woman with Degos disease managed her condition for nine years with medications and had two healthy pregnancies, while a separate finding suggests a possible link between female pattern hair loss and high blood pressure.
research Hypoparathyroidism as the single major component for decades of autoimmune polyglandular syndrome type 1
A man with hypoparathyroidism had other health issues that led to a diagnosis of a rare autoimmune disorder, APS-1.
research Atrichia with papular lesions in two Pakistani consanguineous families resulting from mutations in the human hairless gene
research Arthroderma vanbreuseghemiiinfection in three family members with kerion and tinea corporis
A family got a fungal infection from a boy who had contact with rabbits, but they all recovered with treatment.
research The analysis of genetics and associated autoimmune diseases in Chinese vitiligo patients
Generalized vitiligo in Chinese patients is linked to other autoimmune diseases, especially in familial cases.
research Autoimmunity in Satoyoshi Disease: a Systematic Review
Satoyoshi syndrome is likely an autoimmune disease that mainly affects young women and improves with immune-related treatments.
research Congenital atrichia with papular lesions
Congenital atrichia with papular lesions causes permanent hair loss and skin bumps due to a gene mutation.
research BJD Editor's Choice
Some Greek melanoma patients have gene mutations linked to increased cancer risk, a new color feature helps diagnose melanoma, the incidence of a skin condition in the Netherlands is rare, and a gene possibly affects male-pattern baldness.