research A novel homozygous variant in the dsp gene underlies the first case of non-syndromic form of alopecia
A new gene variant in the DSP gene is linked to a unique type of hair loss.
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330-360 / 1000+ results research Cutaneous Clues in Systemic Disease: The Role of Dermatological Manifestations in Internal Medicine and Endocrinology
Skin changes can indicate underlying health issues like diabetes or thyroid problems.
research A case of monilethrix caused by novel compound heterozygous mutations in the desmoglein 4 (DSG4) gene
New mutations in the DSG4 gene cause a rare hair condition.
research Ichthyosiform Erythroderma, a Multifaceted Syndromic Entity
A baby with KID syndrome died from infections and organ failure at 18 months old.
research 11. Accelerated UIP: a special challenge
Diagnosing and treating rapidly worsening lung disease is difficult and requires better guidelines and understanding.
research Dermatologic Manifestations of Systemic Diseases in Childhood
Recognizing skin symptoms in children can help diagnose and manage serious diseases early.
research A New CARASIL Family: Recurrent Lobar Hemorrhage as a Novel Characteristic of the Disease
CARASIL can cause different symptoms even with the same genetic mutation.
research Skin manifestations associated with systemic diseases – Part II
Certain skin symptoms can indicate underlying body-wide illnesses.
research Cutaneous alternariosis in a patient with idiopathic pulmonary fibrosis
A 78-year-old farmer with lung disease had skin lesions from a fungal infection that healed completely with medication.
research Novel de novo pathogenic variant in the ODC1 gene in a girl with developmental delay, alopecia, and dysmorphic features
A new genetic mutation in the ODC1 gene causes developmental delay and other symptoms in a young girl.
research Undifferentiated connective tissue disease presenting with vascular pattern of renal amyloidosis with carpel tunnel syndrome: A case report
A woman with undifferentiated connective tissue disease was diagnosed with renal amyloidosis and carpal tunnel syndrome.
research 1436 Lesional skin histology in drug-induced hypersensitivity syndrome: A single center 10-year experience of 37 patients
Interface dermatitis is the most common skin change in drug-induced hypersensitivity syndrome.
research FOX FORDYCE DISEASE IN A PREPUBERTAL GIRL
A 10-year-old girl with Fox Fordyce disease improved with treatment, suggesting the disease can occur before puberty and might be underdiagnosed in young girls.
research Dengue-Associated Telogen Effluvium Causing Body Dysmorphic Disorder
Dengue fever can cause hair loss that may lead to serious psychological issues like Body Dysmorphic Disorder in young women.
research Alopecia with Vitamin D-Dependent Rickets Type 2 A: A Case Report
A child with a rare vitamin D-resistant condition improved with treatment.
research Perforating Folliculitis: A Transepidermal Elimination Disorder
A 62-year-old man with diabetes and kidney disease had itchy skin lesions diagnosed as perforating folliculitis, treated with medication and skin care.
research Skin disorders in diabetes mellitus
Diabetes can cause a variety of skin disorders, some of which may signal more serious health issues.
research Dermoscopic Features of Dermatitis Cruris Pustulosa et Atrophicans: A Retrospective Study from a Tertiary Care Center in South India
DCPA commonly affects males' lower legs, showing follicular pustules and white areas.
research Hereditary vitamin D-resistant rickets (HVDRR) owing to a heterozygous mutation in the vitamin D receptor
A girl had rickets due to a gene mutation affecting vitamin D response.
research Spontaneous Lesions of Endangered Geriatric Julia Creek Dunnarts (Sminthopsis douglasi, Archer 1979) with Emphasis in Reproductive Pathology
Aged Julia Creek dunnarts suffer from reproductive and hormonal issues, aiding conservation efforts.
research P-19 A case of Birt Hogg Dube syndrome presented with parathyroid carcinoma
This is the first known case of parathyroid cancer in a patient with Birt Hogg Dube Syndrome.
research 5175 A Rare Case of Type B Insulin Resistance Syndrome
Type B Insulin Resistance Syndrome is rare, linked to lupus, and hard to treat due to severe insulin resistance.
research Erythrokeratodermia Variabilis
A 4-year-old girl was diagnosed with erythrokeratodermia variabilis after other treatments failed.
research Madarosis: A dermatological marker
research CUTANEOUS MASTOCYTOSIS IN CHILDREN: AN INDIAN EXPERIENCE
Fox Fordyce disease can occur in prepubertal girls and may be underdiagnosed.
research Manifestasi Klinis COVID-19 Pada Kulit
COVID-19 can cause various skin issues, helping doctors diagnose it early.
research 46, XY 5-Alpha Reductase Deficiency in a 36-Year-Old Phenotypic Female Patient
A 36-year-old person with a female appearance but male chromosomes was diagnosed with a rare enzyme deficiency affecting sexual development.
research Parkinson's disease and skin
Parkinson's disease is linked to skin disorders and skin cells help in studying the disease.
research Metastatic Crohn's Disease of the Lung
Pulmonary symptoms in Crohn's disease can occur and should be diagnosed with bronchoscopy for effective treatment.
research Early Onset Werner Syndrome
Consider Werner syndrome in young patients with early aging signs and metabolic issues.