research NIPAL4 mutation c.527C˃A identified in Romanian patients with autosomal recessive congenital ichthyosis
The NIPAL4 mutation c.527C>A is common in Romanian patients with autosomal recessive congenital ichthyosis.
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research Novel mutations of the ABCA12, KRT1 and ST14 genes in three unrelated newborns showing congenital ichthyosis
New genetic mutations linked to rare skin disorders were found in three newborns.
research MULTIPLE DEFECTS OF THE HAIR SHAFT IN NETHERTON'S DISEASE.
Netherton's disease causes multiple hair defects.
research Coexisting trichorrhexis nodosa and pili annulati: a case report of hair shaft abnormalities in a syrian family
A 23-year-old Syrian woman has two rare hair disorders, and avoiding hair treatments plus using vitamins and minoxidil may help.
research Congenital Trichomegaly of the Eyelashes
A 7-year-old girl had unusually long eyelashes with no known cause or related health issues.
research Inherited ichthyoses/generalized Mendelian disorders of cornification
Inherited ichthyoses cause widespread skin scaling and thickening due to gene mutations.
research Molecular basis of congenital atrichia in humans and mice.
Understanding genes and mutations can lead to new treatments for hair loss disorders.
research Hair Shaft Abnormalities. Pili Bifurcati: A Scanning Electron Microscopy Analysis
The study found that pili bifurcati causes hair to intermittently split into two branches, each with its own outer layer.
research Congenital erythropoietic porphyria five years observation with standard treatment: a case report
Standard treatment for congenital erythropoietic porphyria was ineffective over five years.
research PSEUDOPELADE: AN INHERITED ALOPECIA
Pseudopelade is a rare inherited hair loss condition with a genetic cause.
research Ichthyosis hystrix
A rare skin condition with dark, thick, warty patches and some hair loss was found in a newborn boy.
research Autosomal Recessive Transmission of a Rare KRT74 Variant Causes Hair and Nail Ectodermal Dysplasia: Allelism with Dominant Woolly Hair/Hypotrichosis
A rare gene variant causes hair and nail issues in a family.
research Congenital and Hereditary Skin Diseases
Bovines can have rare inherited skin diseases with specific symptoms like hair loss, fragile skin, and abnormal porphyrin buildup.
research Familial and Sporadic Porphyria Cutanea Tarda
Most patients with Porphyria Cutanea Tarda had skin blisters and were often affected by hepatitis C and alcohol abuse, with differences between familial and sporadic cases.
research Dermoscopic Features of Pili Annulati: Features of PA
Pili annulati causes zebra-striped hair but doesn't affect hair strength or quality of life.
research Porokeratotic eccrine ostial and dermal duct nevus: A noteworthy presentation
PEODDN is a rare skin disorder with limited treatment options, best treated with laser therapy.
research Onychogryphosis by an elastic wire
research Koilonychia in a Patient with Alopecia Areata.
Koilonychia in alopecia areata can improve with oral corticosteroids.
research BH15 Nonsyndromic hypotrichosis: a rare case of congenital hypotrichosis 15 and management with minoxidil
Topical minoxidil may help improve hair growth in rare congenital hypotrichosis.
research Hair dysplasias
Hair dysplasias involve various hair disorders causing fragility, breakage, and poor hair adhesion.
research Two Cases of Hypertrichosis Cubiti
Two cases of hairy elbows syndrome were described, with normal skin texture and symmetrical hair growth.
research Morphological study in a mechanism of congenital pili torti formation: Björnstad syndrome
Björnstad syndrome causes twisted hair from birth.
research Disorders of Keratinization
The chapter explains that there are many genetic skin disorders affecting skin cell formation, including both common and rare types.
research The Coexistence of Trachyonychia and Mucocutaneous Lichen Planus: A Case Report
Early diagnosis and treatment of nail and skin conditions can improve health and appearance.
research Discreet monilethrix: De novo mutation on the example of polish families
A new mutation caused a rare hair disorder in a Polish girl, not inherited from her family.
research Atypical Juvenile Pityriasis Rubra Pilaris: A Case Report of Early Onset With Late Diagnosis
A rare skin condition in a 17-year-old was diagnosed late, stressing the need for careful evaluation and genetic testing.
research Child with De Novo t(1;6)(p22.1;p22.1) translocation and features of ectodermal dysplasia with hypodontia and developmental delay
A chromosomal change may cause ectodermal dysplasia and developmental issues in a child.
research Alopecia areata in a patient with WNT10A heterozygous ectodermal dysplasia
A girl with a rare genetic condition affecting hair and nails also developed a common type of hair loss, suggesting a possible genetic link.
research Dermatopathia pigmentosa reticularis: A rare reticulate pigmentary disorder
Dermatopathia pigmentosa reticularis causes skin discoloration, hair loss, and nail problems.
research PATHOGENESIS OF GENETIC HUMAN HAIR DISORDERS
All major hair defects involve cuticle abnormalities.