research Recalcitrant alopecia areata responsive to leflunomide and anthralin—Potentially undiscovered JAK /STAT inhibitors?
Leflunomide and anthralin may effectively treat severe alopecia areata.
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150-180 / 1000+ results research Recalcitrant alopecia areata responsive to leflunomide and anthralin—Potentially undiscovered
research ODP021 A Feminizing Adrenocortical Carcinoma Presenting with Marie-Antoinette Syndrome
A man's rare adrenal tumor caused feminization and white hair, was removed surgically, and improved after treatment.
research Unilateral heterochromia of scalp hair with adjacent hypomelanotic skin lesions
The boy's hair and skin color differences are due to a pigmentation disorder.
research Successful Immunsuppression in Childhood Alopecia Areata
Immunosuppression therapy with methylprednisolone effectively treats childhood alopecia areata.
research 307 Phenotypic-genotypic expansion of plectinopathy in a patient with muscular dystrophy and immune-mediated myasthenia gravis
A patient with a new PLEC gene mutation showed symptoms of both muscular dystrophy and myasthenia gravis, which improved with steroid treatment.
research Adult Onset Still Disease
High-dose corticosteroid treatment helped improve symptoms in a patient with Adult Onset Still Disease.
research KASUS RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA-MITIS YANG TERDIAGNOSIS PADA SAAT LANJUT USIA
Accurate diagnosis of RDEB-mitis in older adults is crucial for proper management without immunosuppressants.
research Exome analysis for Cronkhite-Canada syndrome: A case report
Albumin and prednisone improved symptoms in a woman with Cronkhite-Canada syndrome, revealing potential genetic causes.
research Azathioprine‐induced alopecia and leukopenia associated with NUDT 15 polymorphisms
Certain genetic variations can make people more likely to experience hair loss and low white blood cell count from azathioprine.
research [Association of a pediatric bullous eruption, cutaneous and muscular atrophy, hyperpigmentation and dysmorphism. A new entity?].
The boy's symptoms suggest a possible new medical condition.
research Hyperadrenocorticism (Hyperadrenocorticoidism, Hyperadrenocorticalism, Cushing’s Disease, Cushing’s Syndrome)
Treatment can improve survival and symptoms in dogs with Cushing's disease, but outcomes are unpredictable.
research Widespread erythematous scaly eruption in an infant with phenylketonuria
Restoring phenylalanine levels improved skin and hair symptoms in a PKU infant.
research 69-Year-Old Man With Dysuria and Right Lower Abdominal Pain
The man was diagnosed with stage III multiple myeloma and treated to improve kidney function.
research A novel EDA variant that causes X-linked hypohidrotic ectodermal dysplasia in a Chinese family
A new EDA gene variant causes X-linked hypohidrotic ectodermal dysplasia in a Chinese family.
research LBODP010 A Case of Glucocorticoid Resistance Syndrome
The patient likely has Chrousos syndrome, a rare condition causing insensitivity to glucocorticoids, requiring high-dose dexamethasone treatment.
research 46,XY DSD due to impaired androgen production
Impaired androgen production in 46,XY DSDs causes ambiguous genitalia and requires long-term care.
research NEMO syndrome (incontinentia pigmenti) and systemic lupus erythematosus: A new disease association
NEMO syndrome and systemic lupus erythematosus are linked in a new disease association.
research Dramatic Response of Scarring Scalp Discoid Lupus Erythematosus (DLE) to Intravenous Methylprednisolone, Oral Corticosteroids, and Hydroxychloroquine in a 5-Year-Old Child
A 5-year-old girl's scalp scarring and hair loss from lupus improved with specific medications.
research Exome-wide age-of-onset analysis reveals exonic variants in ERN1 and SPPL2C associated with Alzheimer’s disease
Researchers found two new genetic variants linked to Alzheimer's disease.
research Acquired Acrodermatitis Enteropathica in an Infant
An infant with a zinc deficiency skin disorder improved with zinc treatment.
research Interplay between EDA-EDAR and WNT signalling pathways in the development of skin appendages in hypohidrotic ectodermal dysplasia
Restoring EDA and WNT pathways early may help improve skin, hair, and teeth issues in hypohidrotic ectodermal dysplasia.
research P56 Azathioprine-induced alopecia totalis and knuckle hyperpigmentation in a child with uveitis: test before you leap!
Monitor for early signs of azathioprine toxicity and check blood counts regularly.
research The clinical features and long time follow-up of neonatal lupus erythematosus in 12 children
Neonatal lupus symptoms usually resolve, but some children may develop other autoimmune diseases later.
research Kinky Hair Disease. Biochemical, Histochemical, and Ultrastructural Studies
research Sjogren-Larsson Syndrome
If someone has scaly skin, muscle stiffness, and intellectual disability, doctors should consider Sjogren-Larsson Syndrome, but other conditions if more symptoms are present.
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 Micturitional disturbance in a patient with adrenomyeloneuropathy (AMN)
Adrenomyeloneuropathy (AMN) can cause bladder problems due to nerve damage.
research The urine as a diagnostic key for a homozygous EGFR mutation
A rare EGFR mutation in newborns leads to severe health issues and early death.
research Effects of androgen overproduction on skin target organs in children with congenital adrenal hyperplasia
research Atrichia congenita with papular lesions: A rare cause of pediatric alopecia
This rare genetic disorder causes permanent hair loss and skin bumps from birth.