research A mutation in the hair matrix and cuticle keratin KRTHB5 gene causes ectodermal dysplasia of hair and nail type
A mutation in the KRTHB5 gene causes hair and nail issues.
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480-510 / 1000+ resultsresearch S1:05 Cutaneous lupus subtypes: the tissue response influences the phenotype
research Cirmcumscribed juvenile pityriasis rubra pilaris in a 5-year-old-girl treated with topical keratolytic and steroid
A 5-year-old girl with a rare skin disorder was effectively treated with skin creams instead of oral medication.
research NETHERTON'S SYNDROME AND ICHTHYOSIS LINEARIS CIRCUMFLEXA
Ichthyosis serpentina may be a variant linked to bamboo hair, with a possible genetic component.
research Index of Suspicion
The girl's symptoms suggest a complex condition that's hard to diagnose despite normal test results.
research Epidermolysis Bullosa in Calves in the United Kingdom
Epidermolysis bullosa in calves was not caused by mutations in the keratin genes bKRT5 and bKRT14.
research Skin manifestations of endocrine diseases
Hormone imbalances from endocrine diseases can cause various skin conditions that help diagnose and treat these diseases early.
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 Bilaterally Symmetrical Alopecia With Reticulated Hyperpigmentation
A Doberman Pinscher had a rare form of autoimmune disease causing hair loss and other severe symptoms.
research Monilethrix
A 12-year-old girl was diagnosed with monilethrix, a genetic condition causing fragile, beaded hair that breaks easily, with no effective treatment available.
research Novel insights into cardiocutaneous syndromes
Understanding genetics is crucial for treating heart and skin diseases.
research Generalized trichorrhexis nodosa
The hair disorder was caused by abnormal protein formation, making hair easily damaged.
research Ichthyosis, atopic dermatitis, and alopecia
research CDH3 gene related hypotrichosis and juvenile macular dystrophy – A case with a novel mutation
A new mutation in the CDH3 gene causes hair loss and vision problems in a young girl.
research Expanding the Nude SCID/CID Phenotype Associated with FOXN1 Homozygous, Compound Heterozygous, or Heterozygous Mutations
FOXN1 mutations can cause varying immune and physical issues, with severity influenced by gene activity and possibly other factors.
research Trichothiodystrophy Associated with Urologic Malformation and Primary Hypercalduria
Trichothiodystrophy can be linked to urologic issues and high calcium in urine.
research Cutaneous lupus erythematosus: clinico-pathologic correlation
Cutaneous lupus erythematosus is a chronic skin disease that can progress to systemic lupus in some cases and requires treatment to prevent recurrences and scarring.
research An unusual variant of granulomatous adnexotropic cutaneous T-cell lymphoma
A rare type of skin lymphoma was identified, affecting hair follicles and sweat glands.
research Autosomal recessive monilethrix: Novel variants of the DSG4 gene in three Chinese families
New gene variants linked to a rare inherited hair loss disorder were found in three Chinese families.
research Deficiency of the human cysteine protease inhibitor cystatin M/E causes hypotrichosis and dry skin
Lack of cystatin M/E causes thin hair and dry skin.
research Atypical Presentation of Systemic Lupus Erythematous with Vasculitic Polyneuropathy
A rare form of lupus can cause severe nerve damage and other symptoms, but treatment can help.
research Spiny keratoderma ‐ a demonstration of hair keratin and hair type keratinization
Spiny keratoderma may be ectopic hair formation on palms and soles.
research Epidermal cyst containing numerous spherules of keratin
The cyst had unusual keratin spherules and resembled bone marrow.
research Chinese SLE Treatment and Research Group Registry (CSTAR) XIII: prevalence and risk factors for chronic scarring alopecia in patients with systemic lupus erythematosus
About 8% of people with systemic lupus erythematosus have chronic scarring alopecia, with certain symptoms and positive antibodies increasing the risk, while immunosuppressants may lower it.
research Alopecia in congenital hidrotic ectodermal dysplasia responding to treatment with a combination of topical minoxidil and tretinoin
Hair loss in Clouston's syndrome improved with minoxidil and tretinoin treatment.
research A case of congenital pili multigemini
A rare, harmless hair condition was found in an infant's eyebrow, needing no treatment.
research Keratosis follicularis spinulosa decalvans in a family
KFSD is a genetic disorder causing hair loss and skin issues, with no effective treatment.
research Cicatrising Alopecias.
Pseudopelade is likely an independent disease due to its distinct features.
research Diagnostic dilemma: Multiple Autoimmune Syndrome versus incomplete Graham-Little-Piccardi-Lassueur Syndrome overlap mixed connective tissue disease
The case shows how hard it is to tell apart Multiple Autoimmune Syndrome from other similar autoimmune conditions, but correct diagnosis is key for treatment to work.
research Hipertricose generalizada exuberante em um lactente: relato de caso
An infant developed excessive hair growth after a bone marrow transplant and cyclosporine treatment.