research Case Report: A Deletion Variant in the DCAF17 Gene Underlying Woodhouse-Sakati Syndrome in a Chinese Consanguineous Family
A genetic mutation in the DCAF17 gene caused Woodhouse-Sakati syndrome in a Chinese patient from a related family.
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research Linear Lichen Planus Pigmentosus of the Face with Histological Findings of Lichen Planopilaris: An Uncommon Variant of Lichen Planus
A unique case showed a rare combination of two types of lichen planus on the face.
research Novel Androgen Receptor Gene Variant Containing a Premature Termination Codon in a Patient with Androgen Insensitivity Syndrome
A new genetic change causing early stop in the androgen receptor gene was found in a patient with androgen insensitivity syndrome.
research EDA Missense Variant in a Cat with X-Linked Hypohidrotic Ectodermal Dysplasia
A genetic mutation in the EDA gene causes hypohidrotic ectodermal dysplasia in cats.
research The Glucocorticoid Resistance Syndrome: Two Cases of a Novel Pathogenic Variant in the Glucocorticoid Receptor Gene
A new gene variant causes glucocorticoid resistance in a mother and son.
research Nevus Sebaceus With Novel HRAS Sequence Variant Mutation Misdiagnosed As Alopecia Areata
A 12-year-old girl was misdiagnosed with alopecia areata but actually had a nevus sebaceus with a genetic mutation.
research Phenotypic Heterogeneity of Epidermolysis Bullosa Associated With the Recurrent Pathogenic Variant p.(Arg2000Trp) in Plectin
The specific skin disease variant p.(Arg2000Trp) in plectin can cause a wide range of symptoms, which should be considered when diagnosing patients.
research A Genome-Wide Association Study Identified a Genetic Variant Associated With Hair Thinning in Japanese Women
A genetic variant linked to hair thinning in Japanese women was found.
research A Novel Pathogenic Variant of NECTIN4 Gene in a Child With Ectodermal Dysplasia-Syndactyly Syndrome
A child with ectodermal dysplasia-syndactyly syndrome has a new mutation in the NECTIN4 gene.
research Case Report: Bi-Allelic Missense Variant in the Desmocollin 3 Gene Causes Hypotrichosis and Recurrent Skin Vesicles
A new genetic change in the DSC3 gene is linked to a rare condition causing hair loss and skin blisters in a child.
research Clear Cell Variant of Eccrine Porocarcinoma of the Hand: A Case Report
A 90-year-old woman's hand lesion was a rare, aggressive skin cancer treated successfully with surgery.
research Severe Thiopurine-Induced Myelotoxicity and Hair Loss in Japanese Patients with NUDT15 Gene Variant: A Retrospective Case-Control Study
Screening for the NUDT15 gene variant can prevent severe side effects from thiopurine drugs in East-Asian people.
research Postmenopausal Frontal Fibrosing Alopecia: A Frontal Variant of Lichen Planopilaris
Frontal fibrosing alopecia is a hair loss condition in postmenopausal women, similar to lichen planopilaris, with ineffective treatments.
research An Incompletely Penetrant Novel MAFB (p.Ser56Phe) Variant in Autosomal Dominant Multicentric Carpotarsal Osteolysis Syndrome
Researchers found a new gene variant linked to a rare bone disease, which doesn't always cause symptoms in carriers.
research Follicular Mucinous Nevus: A Possible New Variant of Mucinous Nevus
Researchers found a potential new type of skin growth called follicular mucinous nevus.
research Female Pattern Hair Loss in Men: A Distinct Clinical Variant of Androgenetic Alopecia
Men can experience female pattern hair loss, needing different treatments.
research Cicatricial Pattern Hair Loss Is Not a Variant of Lichen Planopilaris
Cicatricial pattern hair loss is likely advanced common baldness, not a type of lichen planopilaris.
research Pruritic Trichostasis Spinulosa: A Rare Variant
A rare hair follicle disorder can cause itchy, bluish-black bumps on the body.
research Bitemporal Alopecia: A Unique Pattern Variant of Alopecia
The document concludes that "hot comb alopecia" is now called "central cicatricial centrifugal alopecia" and its causes are complex.
research An Unusual Presentation of Dermatomyositis: The Type Wong Variant Revisited
A woman with dermatomyositis showed rare skin symptoms, was treated successfully, and her case suggests checking for cancer in similar patients.
research Alopecia Areata - Vitiligo Overlap Syndrome: An Emerging Clinical Variant
Alopecia areata and vitiligo can coexist, respond well to treatment, and may have a better prognosis together.
research An Unusual Presentation of Dermatomyositis: The Type Wong Variant Revisited
A woman with a rare type of dermatomyositis improved with low-dose prednisone and methotrexate.
research Post-Traumatic Erosive Dermatosis of the Scalp: A Hypergranulated Variant
Elderly men with a scalp condition healed in about 26 days using specific creams and dressings, with no return of the condition in 6 months.
research OsUEV1B, a Ubc Enzyme Variant Protein, Is Required for Phosphate Homeostasis in Rice
OsUEV1B protein is essential for controlling phosphate levels in rice.
research Becker Naevus Syndrome Associated With a Mosaic Pathogenic Variant in ACTB
A girl with Becker naevus syndrome has a genetic variant in the ACTB gene related to her symptoms.
research A Brazilian Case of IFAP Syndrome With Severe Congenital Ichthyosis and Limb Malformations Caused by a Rare Variant in MBTPS2
A Brazilian male with IFAP syndrome has a unique genetic variant causing his condition.
research A Rare Case of Isolated Pulmonary Involvement in Lymphoid Variant Hypereosinophilic Syndrome
A man with a rare lung-focused form of hypereosinophilic syndrome improved with steroid treatment.
research Could Oral Minoxidil Be Superior to Its Topical Variant for Treatment of Female Pattern Hair Loss?
research Linear Lupus Panniculitis of the Scalp Presenting as Alopecia Along Blaschko’s Lines: A Distinct Variant of Lupus Panniculitis in East Asians?
A unique type of lupus panniculitis causes reversible hair loss on the scalp in East Asians.
research Azathioprine-Induced Severe Myelosuppression Accompanied by Massive Hair Loss and Painful Oral Ulcer in an Autoimmune Hepatitis Patient with NUDT15 Minor Variant: A Case Report
Genetic testing is crucial before giving azathioprine to avoid severe side effects.