research Pachyonychia Congenita-Associated Alopecia. A Microscopic Analysis Using Transverse Section Technique
PC-associated alopecia has unique microscopic features.
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570-600 / 1000+ resultsresearch T Cell Immunodeficiency, Congenital Alopecia, and Nail Dystrophy
A rare genetic mutation causes severe immune issues, hair loss, and nail problems.
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 Amelanocytic Anhidrotic Alopecia Areata-like Phenotype After Allogeneic Hematopoietic Cell Transplant
The immune system can cause permanent skin and hair whitening by attacking pigment cells.
research Atrichia with papular lesions resulting from a novel homozygous missense mutation in the hairless gene
A new genetic mutation in the hairless gene causes a rare hair loss disorder.
research Genetic Basis of Pigmentation and Its Disorders
Understanding genes can help diagnose and treat skin color disorders.
research ILDS Newsletter No. 29
The ILDS Newsletter reported on efforts to support albinism patients in Tanzania and dermatological conferences.
research Zinc deficiency or genetic mutations?—A case report of hair heterochromia in the context of MC1R genetic mutations
A boy's hair turned red because of genetic mutations, not lack of zinc.
research Genomewide analysis of copy number variants in alopecia areata in a C entral E uropean cohort reveals association with MCHR 2
MCHR2 gene duplications may be linked to alopecia areata.
research Adrenoleukodystrophy: A Rare Case Report
Early diagnosis and genetic counseling are crucial for managing adrenoleukodystrophy.
research A rare cause of irrevocable childhood alopecia feigning alopecia universalis: Atrichia congenita with papular lesions
An 8-year-old girl has a rare genetic disorder causing complete, irreversible hair loss and skin bumps.
research Dyschromatosis Universalis Hereditaria: Report of a case and Review of the Literature
A 19-month-old Saudi girl had a rare skin condition with no other defects, and her family was unaffected.
research BH21 Segmented heterochromia with calibre change: an under-recognized sign of alopecia areata
Segmented hair color changes can indicate active alopecia areata.
research AUTOSOMAL DOMINANT INHERITANCE OF ALOPECIA CONGENITA WITH KERATOSIS PALMO-PLANTARIS
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 Hypotrichosis with juvenile macular dystrophy: a case report with molecular study
A new genetic mutation was found causing hair and eye issues in a boy.
research An unusual presentation of X-linked adrenoleukodystrophy
A man with X-ALD improved after treatment, highlighting the need to consider X-ALD in similar patients and test their relatives.
research A novel PLEC nonsense homozygous mutation (c.7159G > T; p.Glu2387*) causes epidermolysis bullosa simplex with muscular dystrophy and diffuse alopecia: a case report
A new mutation in the PLEC gene causes a rare condition with skin blistering, muscle weakness, and hair loss.
research Trichoscopy of aplasia cutis congenita of the scalp in skin of color
Trichoscopy is effective for diagnosing scalp ACC in darker skin tones.
research Disorders of pigmentation in infants and children
Vitiligo causes white skin patches, often starts before age 20, and is linked to other health issues.
research Asebia-2J (Scd1ab2J): A New Allele and a Model for Scarring Alopecia
The absence of functional sebaceous glands causes hair follicle destruction and scarring alopecia.
research Reversible hypopigmentation of hair secondary to Vitamin B12 deficiency
Vitamin B12 deficiency can cause reversible hair color loss in children.
research Congenital atrichia with papular lesions
Congenital atrichia with papular lesions causes permanent hair loss and skin bumps from birth.
research Hypopigmentation in frontal fibrosing alopecia
FFA patients have fewer melanocytes and thinner skin compared to others.
research An Unusual Ala12Thr Polymorphism in the 1A α-Helical Segment of the Companion Layer-Specific Keratin K6hf: Evidence for a Risk Factor in the Etiology of the Common Hair Disorder Pseudofolliculitis Barbae
research A Homozygous Nonsense Mutation in the Zinc-Finger Domain of the Human Hairless Gene Underlies Congenital Atrichia
A specific gene mutation causes complete hair loss without other health issues.
research Total melanonychia of 20 nails as a rare manifestation of vitamin B12 deficiency
Vitamin B12 deficiency can cause darkening of all nails.
research Pili Annulati
The patient's hair has unique structural differences with alternating bright and dark bands.
research Field melanin mapping of the hairless scalp
The study found a specific pattern of uneven melanin distribution on balding scalps that could help understand skin diseases caused by light exposure.
research Molecular basis of hypotrichosis with juvenile macular dystrophy in two siblings
A specific gene mutation causes hair loss and potential eye issues, even if vision seems normal.