research Uncombable hair (pili trianguli et Canaliculi): Evidence for dominant inheritance with complete penetrance based on scanning electron microscopy
Uncombable hair is inherited dominantly with complete penetrance.
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300-330 / 1000+ resultsresearch A novel point mutation of keratin 17 (KRT17) in a Japanese family with pachyonychia congenita type 2: an RNA-based genetic analysis using a single hair bulb
research Novel Mutations in X-Linked Dominant Chondrodysplasia Punctata (CDPX2)
New mutations in the EBP gene cause CDPX2, affecting bones, skin, eyes, and hair, with females generally less affected than males.
research AUTOSOMAL DOMINANT INHERITANCE OF ALOPECIA CONGENITA WITH KERATOSIS PALMO-PLANTARIS
research Dermatopathia pigmentosa reticularis: A rare reticulate pigmentary disorder
Dermatopathia pigmentosa reticularis causes skin discoloration, hair loss, and nail problems.
research Dominant dystrophic epidermolysis bullosa: Seven familial cases
The document concludes that detailed clinical descriptions of seven family cases help understand dominant dystrophic epidermolysis bullosa's symptoms and inheritance.
research Building Models for Keratin Disorders
Krt16-deficient mice help understand skin disorders like PC and FNEPPK.
research Keratin 17 mutations cause either steatocystoma multiplex or pachyonychia congenita type 2
Keratin 17 gene mutations cause both steatocystoma multiplex and pachyonychia congenita type 2.
research Autosomal dominant monilethrix with incomplete penetrance due to a novel KRT86 mutation in a Chinese family
research Spink5-deficient mice mimic Netherton syndrome through degradation of desmoglein 1 by epidermal protease hyperactivity
research Repigmentation of leukoderma in a piebald patient associated with a novel c-KIT gene mutation, G592E, of the tyrosine kinase domain
A new gene mutation may allow some piebaldism patients to regain skin color in white patches.
research Mutations in γ-secretase subunit–encoding PSENEN underlie Dowling-Degos disease associated with acne inversa
PSENEN gene mutations can cause both Dowling-Degos disease and acne inversa.
research A gene for pachyonychia congenita is closely linked to the keratin gene cluster on 17q12-q21.
Pachyonychia congenita is linked to a keratin gene on chromosome 17.
research Patched-assoziierte Tumoren: Modifikatorgene und Pathogenese
The document concludes that the development of certain tumors is influenced by genetic background and that a specific gene modification can lead to tumor regression and reduced growth.
research RSPO1-mutated keratinocytes from palmoplantar keratoderma display impaired differentiation, alteration of cell–cell adhesion, EMT-like phenotype and invasiveness properties: implications for squamous cell carcinoma susceptibility in patients with 46XX disorder of sexual development
RSPO1 mutations in certain patients lead to skin cells that don't develop properly and are more likely to become invasive, increasing the risk of skin cancer.
research 464 Phenotypic heterogeneity of epidermolysis bullosa associated with the recurrent pathogenic variant p.(Arg2000Trp) in plectin
The specific skin disease variant p.(Arg2000Trp) in plectin can cause a wide range of symptoms, which should be considered when diagnosing patients.
research Piebaldism in tree shrews
research A new type of pachyonychia congenita.
A new type of pachyonychia congenita may exist, caused by a different keratin mutation.
research Delayed-onset pachyonychia congenita caused by a novel mutation in the V2 domain of keratin 6b
A new mutation in the K6b gene caused a girl's late-appearing nail condition.
research Painful thickened skin on the soles of the feet
The man has a genetic skin condition called pachyonychia congenita.
research DSP c.6310delA p.(Thr2104Glnfs*12) associates with arrhythmogenic cardiomyopathy, increased trabeculation, curly hair, and palmoplantar keratoderma
A specific gene variant is linked to heart disease, increased heart muscle, curly hair, and thick skin on palms and soles.
research Identification of a novelPNPLA1mutation in a Spanish family with autosomal recessive congenital ichthyosis
A new gene mutation linked to a skin condition was found in a Spanish family.
research Epidermolysis Bullosa Simplex Caused by Distal Truncation of BPAG1-e: An Intermediate Generalized Phenotype with Prurigo Papules
A rare gene mutation causes skin fragility and itching without affecting hair or nails.
research 267 Deep phenotyping of patients with xeroderma pigmentosum and trichothiodystrophy
Deep phenotyping helps distinguish between xeroderma pigmentosum and trichothiodystrophy, aiding in diagnosis and treatment.
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 Pitx2, a β-catenin-regulated transcription factor, regulates the differentiation of outer root sheath cells cultured in vitro
Pitx2 helps outer root sheath cells differentiate but can't start hair growth on its own.
research Dermatopathia Pigmentosa Reticularis: Report of a New Cases and Literature Review
DPR can show different hair characteristics, as seen in two brothers with normal hair.
research Region-specific reversal of epidermal planar polarity in the rosette fancy mouse
Hair follicles in the back of the rosette fancy mouse have reversed orientations due to a gene mutation.
research Isolated patchy heterochromia with pili annulati features on light and electron microscopy
Isolated patchy heterochromia with pili annulati can occur without other health issues.
research Pemphigus vulgaris in only one of two monozygotic twins
Genetic factors alone might not cause pemphigus vulgaris; other factors like birth complications and puberty may trigger it.