research Novel Mutation in Sjögren-Larsson Syndrome Is Associated With Divergent Neurologic Phenotypes
The same genetic mutation in Sjögren-Larsson syndrome can lead to different levels of severity, suggesting other factors influence the symptoms.
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660-690 / 1000+ resultsresearch Phenotypic Variability of c.436delC DCAF17 Gene Mutation in Woodhouse-Sakati Syndrome
People with the same genetic mutation for Woodhouse-Sakati syndrome can have different symptoms.
research Atypical pediatric presentation of alopecic and aseptic nodules of the scalp with features of dissecting cellulitis
A 9-year-old boy had a rare scalp condition usually seen in young men.
research The naked truth: Sphynx and Devon Rex cat breed mutations in KRT71
Sphynx cats are hairless and Devon Rex cats have curly hair due to specific genetic mutations.
research Molecular Analysis of a Series of Israeli Families with Comèl-Netherton Syndrome
Certain SPINK5 gene mutations are common in Israeli families with Comèl-Netherton syndrome.
research GJB6 missense variant in a Labrador Retriever with paw pad hyperkeratosis
A genetic variant in the GJB6 gene likely caused the Labrador's paw pad condition.
research Cell Polarization Defects in Early Heart Development
Defects in certain proteins cause major heart abnormalities during early development.
research Patterns of expression of trichocytic and epithelial cytokeratins in mammalian tissues II. Concomitant and mutually exclusive synthesis of trichocytic and epithelial cytokeratins in diverse human and bovine tissues (hair follicle, nail bed and matrix, lingual papilla, thymic reticulum)
Trichocytic cytokeratins are found in hair, nails, tongue, and thymus cells, showing complex regulation in tissue development.
research Inherited ichthyoses/generalized Mendelian disorders of cornification
Inherited ichthyoses cause widespread skin scaling and thickening due to gene mutations.
research Mutation analysis of type II hair keratin gene in a pedigree with monilethrix
A new gene mutation is linked to monilethrix in the studied family.
research Multiple pigmentierte Basaliome im Capillitium bei Myotonia dystrophia Curschmann-Steinert
A woman with myotonic dystrophy had multiple skin tumors on her scalp, suggesting a genetic link.
research ALX4-related frontonasal dysplasia sequence presenting with alopecia in a 12 year old girl
A 12-year-old girl's hair loss was linked to a rare genetic condition called ALX4-related frontonasal dysplasia.
research Multiple Myeloma–Associated Amyloidosis Presenting With Acrolocalized Acquired Cutis Laxa
A man with rare skin changes on his fingers was diagnosed with multiple myeloma-linked amyloidosis.
research Abnormal inner root sheath of the hair follicle in the loose anagen hair syndrome: An ultrastructural study
Loose anagen hair syndrome is caused by structural abnormalities in the hair follicle's inner root sheath.
research Miscellaneous Disorders
Trichorrhexis nodosa causes hair to break easily, often affecting young to middle-aged black women.
research [Two cases of the rare Cronkhite-Canada syndrome].
Two patients with Cronkhite-Canada syndrome achieved remission after treatment.
research FOXN1 Is Critical for Onycholemmal Terminal Differentiation in Nude (Foxn1nu) Mice
The Foxn1 gene is essential for normal nail and hair development.
research Isochromosome Mosaic Turner Syndrome: A Case Report
A 20-year-old woman with a rare form of Turner syndrome showed improvement with hormonal therapy and needs comprehensive care.
research 1322 A non-cell autonomous dermal hedgehog signaling mechanism for follicular neoplasia and induction
Mutations in the SHH pathway in certain skin cells can cause skin tumors and abnormal hair growth.
research Misdiagnosis as asphyxiating thoracic dystrophy and CMV-associated haemophagocytic lymphohistiocytosis in Shwachman-Diamond syndrome
Patients with Shwachman-Diamond syndrome often get misdiagnosed due to a wide range of symptoms, including immune system problems and bone abnormalities.
research Partial Penile Amputation due to Penile Tourniquet Syndrome in a Child Troubled With Primary Nocturnal Enuresis - A Rare Emergency
An 8-year-old boy with bed-wetting issues suffered a severe penile injury from tying a thread around his penis, requiring urgent medical treatment to avoid worse outcomes.
research Cerebellar hypoplasia, hypergonadotrophic hypogonadism, retinitis pigmentosa, alopecia, microcephaly, psychomotor retardation, and short stature: “D-CHRAMPS syndrome”
"D-CHRAMPS syndrome" is a newly identified condition with multiple severe symptoms.
research Plica Neuropathica in 2 Hispanic Patients
Two Hispanic women developed Plica neuropathica, a condition causing tangled hair, possibly due to hair damage and various risk factors.
research Acquired Uncombable Hair
A woman's hair changed to a dry, tangled texture that's hard to comb after treatment with spironolactone, suggesting the medication might cause such hair changes.
research A case of ophiasis type of alopecia areata in a patient with ring chromosome 18 syndrome
A patient with a rare chromosome condition also had a rare type of hair loss.
research Trichostasis Spinulosa of the Heel: Unique Presentation with Characteristic Morphology
A rare skin condition usually on the face was found on a man's heel.
research Loose Anagen Hair as a Cause of Hereditary Hair Loss in Children
Loose Anagen Hair Syndrome is a hereditary condition causing hair loss in children due to abnormal hair follicles.
research Electron microscopic observation of skin and hair on a case of Netherton syndrome
Netherton syndrome causes specific skin and hair changes that help in early diagnosis.
research Heterozygous Arrhythmogenic Cardiomyopathy-desmoplakin Mutation Carriers Exhibit a Subclinical Cutaneous Phenotype with Cell Membrane Disruption and Lack of Intercellular Adhesion
Carriers of a specific gene mutation have subtle skin changes without visible symptoms.
research P-19 A case of Birt Hogg Dube syndrome presented with parathyroid carcinoma
This is the first known case of parathyroid cancer in a patient with Birt Hogg Dube Syndrome.