research Molecular–clinical correlations in a family with variable tissue mitochondrial DNA T8993G mutant load
Tissue-specific variation in mutant load complicates genetic counseling and prenatal diagnosis.
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research Pearly Pinna Papules in a Young Female
The young woman has a benign, hereditary skin condition with no signs of a more serious syndrome.
research Two Cases of Hypertrichosis Cubiti
Two cases of hairy elbows syndrome were described, with normal skin texture and symmetrical hair growth.
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 Steroidogenic Factor-1 Lineage Origin of Skin Lesions in Carney Complex Syndrome
Skin lesions in Carney Complex are caused by a gene change in some skin cells that leads to increased pigmentation and may lead to tumors.
research Schimmelpenning Syndrome: A Neuro-Oculo-Cutaneous Disorder
Schimmelpenning Syndrome requires careful evaluation and tailored treatment for skin, eye, and developmental issues.
research Alopecia in a 19-Month-Old Boy
A 19-month-old boy with a rare hair disorder showed mild improvement with treatment, but his family chose gentle hair care due to limited success.
research Monilethrix unveiled by initial androgenetic alopecia.
An 11-year-old girl with hair thinning was diagnosed with monilethrix and early androgenetic alopecia.
research Loose Anagen Hair Syndrome
A 6-year-old girl's inability to grow her hair long was due to Loose Anagen Hair Syndrome, which causes hair to shed easily and may improve with age.
research Epidermal Nevi
Epidermal nevi are skin cell clusters linked to various syndromes.
research Lentiginous melanoma. A clinically malignant entity that histopathologically seems benign. Case study harbouring BRAF V 600R mutation
A clinically suspected melanoma appeared benign under the microscope but was confirmed by specific tests and a rare mutation.
research Netherton syndrome subtypes share IL-17/IL-36 signature with distinct IFN-α and allergic responses
Netherton syndrome has two subtypes with shared immune traits but different allergic and immune responses, suggesting targeted treatments.
research Natural course of epidermolysis bullosa simplex with mottled pigmentation in a Japanese family with the p.P25L mutation in KRT 5
The p.P25L mutation in the KRT5 gene causes a rare skin condition that worsens over time and may lead to hair loss starting in young adulthood.
research A 61-year-old Filipino man with lichen planus concomitant with cicatricial alopecia, mimicking discoid lupus erythematosus
A 61-year-old Filipino man had a skin condition that looked like another disease, making diagnosis difficult.
research A comedonal variant of chronic cutaneous lupus erythematosus: Case report and literature review
Chronic cutaneous lupus erythematosus causes scarring, hair loss, and skin discoloration, especially on sun-exposed areas.
research Cutaneous manifestations and systemic correlation in patients with lupus erythematosus and its subsets: a study of 40 cases
Skin issues like hair loss, rash, and sensitivity to sunlight are key signs of lupus activity.
research Comedonic discoid lupus erythematous
Doctors should consider comedonic discoid lupus erythematosus to avoid misdiagnosis.
research Monilethrix – Case report of a rare disease
Monilethrix causes fragile, patchy hair loss.
research [An infant with short stature and red cheeks (Rothmund-Thomson syndrome)].
The infant was diagnosed with Rothmund-Thomson syndrome, a rare genetic disorder causing various physical and developmental issues.
research Hereditary Hypotrichosis and Localized Morphea: A New Clinical Entity
A family showed a new condition with inherited hair loss and skin changes, possibly due to one genetic disorder.
research CPC12 Coinheritance of BRCA2 and CYLD germline pathogenic variants associated with targetable metastatic malignant cylindroma
Coinheritance of BRCA2 and CYLD genes may lead to new treatment options for certain cancers.
research Lipedematous Scalp Occurring in Two Female Siblings: Further Evidence for a Genetic Role
Lipedematous scalp may have a genetic link and could be associated with psychiatric conditions.
research Atrichia and Papular Lesions: Report of a Case
A 4-year-old girl has a rare condition causing hairlessness and skin bumps, but normal teeth and sweating.
research AB023. An atypical clinical presentation of alopecia in two patients with systemic lupus erythematosus
Two patients with lupus had an unusual type of hair loss not typical for the disease.
research Syringolymphoid hyperplasia with alopecia and anhidrosis in a 12‐year‐old boy: a case report from rural south India
A 12-year-old boy in rural south India had a rare skin condition causing hair loss and inability to sweat.
research Linear immunoglobulin A/immunoglobulin G bullous dermatosis associated with Vogt-Koyanagi-Harada disease
A man had two rare autoimmune diseases that might be connected.
research Study on linear dermatoses
Linear skin conditions are rare, more common in females, and often misdiagnosed without tissue analysis.
research Tumour development in Lynch syndrome : genes load the gun, lifestyle pulls the trigger?
Lifestyle factors like BMI at young adulthood can increase cancer risk in women with Lynch Syndrome, but diet and height don't seem to affect this risk.
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 LB919 Increased risk of skin cancer and other malignancies in patients with cutaneous lupus erythematous
Patients with cutaneous lupus erythematosus have a higher risk of skin cancer and other cancers.