research Punctate Follicular Porokeratosis
Punctate follicular porokeratosis is a skin condition with specific features seen in hair follicles.
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research Plica neuropathica: novel presentation of a rare disease
A girl with no hair neglect developed plica neuropathica in the hospital, lost all her hair, but it grew back.
research Folliculin, the Product of the Birt-Hogg-Dube Tumor Suppressor Gene, Interacts with the Adherens Junction Protein p0071 to Regulate Cell-Cell Adhesion
The protein folliculin, involved in a rare disease, works with another protein to control how cells stick together and their organization, and changes in this interaction can lead to disease symptoms.
research Diffuse loss of hair with papules
The young man has complete hair loss and skin bumps, with no other health issues or family history.
research Inherited ichthyoses/generalized Mendelian disorders of cornification
Inherited ichthyoses cause widespread skin scaling and thickening due to gene mutations.
research The human promyelocytic leukemia protein is a tumor suppressor for murine skin carcinogenesis
The PML protein helps prevent skin cancer in mice.
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.
research 312 CRISPR/Cas9-based targeted genome editing for correction of recessive dystrophic epidermolysis bullosa using iPS cells
The research showed that CRISPR/Cas9 can fix mutations causing a skin disease in stem cells, which then improved skin grafts in mice, but more work on safety and efficiency is needed.
research Ichthyosis Follicularis with Alopecia and Photophobia Syndrome (IFAP): A Case Report and Review of the Literature
The document describes a rare case of IFAP syndrome, a genetic condition with symptoms of hair loss, light sensitivity, and scaly skin.
research Acral lymphomatoid papulosis
A woman had a rare skin condition with recurring painful nodules that heal in 6 weeks, often without needing treatment.
research 376 Tsc2 disruption in mesenchymal progenitors regulates hair follicles and TGF beta signaling
Disrupting the Tsc2 gene in certain cells leads to thicker skin, larger hair, and changes in hair growth signaling, which can be partly reversed with specific treatment.
research Keratin gene mutations in disorders of human skin and its appendages
Keratin gene mutations cause various skin and hair disorders, but new research offers hope for future treatments.
research Ultrastructural Resemblance of Basal Cell Epithelioma to Primary Epithelial Germ
Basal cell epithelioma resembles fetal hair follicles, not adult or fetal skin.
research Hyaluronate Accumulation and Decreased CD44 Expression in Perifollicular Solitary Cutaneous Myxoma
Reduced CD44 expression may cause abnormal hyaluronate buildup in cutaneous myxoma.
research A case of systemic mastocytosis - an ultrastructural and immunohistochemical study of the dermal mast cells in relation to activation of the epidermal melanin unit
Prednisone reduces organ mast cell infiltration but does not alter the abnormal appearance of mast cells in systemic mastocytosis.
research Pityriasis rubra pilaris: a rare inflammatory dermatosis
An 18-year-old woman was diagnosed with a rare skin condition called Pityriasis rubra pilaris.
research Renbök Phenomenon and Contact Sensitization in a Patient With Alopecia Universalis
Psoriasis or contact dermatitis can override alopecia areata, allowing hair growth.
research Reticular Erythematous Mucinosis Syndrome
Reticular erythematous mucinosis syndrome can occur with minimal mucin deposition.
research Becker's Nevus Syndrome
Becker's Nevus Syndrome is a rare condition with a skin patch and possible bone and muscle abnormalities, treated mainly for appearance.
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 Ichthyosis Follicularis With Alopecia and Photophobia
Two boys had a rare skin condition needing to be differentiated from similar disorders, with unclear inheritance due to few cases.
research A case of localized uncombable hair syndrome
A 4-year-old girl had a rare hair disorder affecting only part of her scalp.
research Selenoproteins Are Essential for Proper Keratinocyte Function and Skin Development
Selenoproteins are crucial for healthy skin and hair.
research Cicatricial alopecia
research PA32 Severe lichen planus with co-localization of vitiligo: a rare and unusual case
A 13-year-old boy had both lichen planus and vitiligo, suggesting a possible link between the two conditions.
research Disease causing homozygous variants in the human hairless gene
New and known mutations in the hairless gene cause a hair loss condition called Atrichia with papular lesions.
research Scarring Folliculitis in the Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome
The patient with EEC syndrome had scarring alopecia due to deep folliculitis, possibly linked to abnormal hair structure.
research Lipedematous alopecia: an uncommon clinicopathologic variant of nonscarring but permanent alopecia
Lipedematous alopecia causes permanent hair loss due to increased scalp fat.
research Acquired progressive kinking of the hair in the setting of Parry-Romberg Syndrome
A woman with Parry-Romberg syndrome developed new curly hair on one side of her scalp, a condition not previously linked to the syndrome.
research KID Syndrome: Report of a Case and Support for Its Reclassification as an Ectodermal Dysplasia
KID syndrome should be reclassified as an ectodermal dysplasia.