research Two Novel MBTPS2 Missense Mutations Impairing S2P Proteolytic Activity Lead to IFAP Syndrome With New Phenotypic Anomalies
New mutations in MBTPS2 reduce its function and cause IFAP syndrome with unusual symptoms.
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research Hair Disorders
Understanding normal hair growth and loss in children is key to diagnosing and treating hair disorders.
research Cicatricial Alopecias
Some hair loss disorders cause permanent loss due to scarring, and treatments like steroids don't always work well.
research New England Dermatological Society Meeting on October 1, 1961
Reassurance is important for postpartum hair shedding as it likely won't cause complete baldness.
research Monilethrix: The Use of Trichoscopy in Clinical Diagnosis
Monilethrix is a genetic disorder causing brittle hair, diagnosed using tricoscopy.
research Clinical Findings, Cutaneous Pathology, and Response to Therapy in 21 Patients With Keratosis Pilaris Atrophicans
The study found that Keratosis Pilaris Atrophicans is a genetic skin condition that starts in childhood, involves inflammation and scarring, and current treatments are only somewhat effective.
research Keratosis Pilaris Is a Keratinization of Hair Follicles
Keratosis pilaris is a common skin condition where hair follicles get clogged with keratin, mostly on the arms and thighs.
research Triad of Keratosis Pilaris, Ulerythema Ophryogenes, and 18p Monosomy: Zouboulis Syndrome
Zouboulis syndrome is a rare condition that helps diagnose monosomy 18p early.
research Navigating Diagnostic Uncertainty: Frontal Fibrosing Alopecia Versus Keratosis Pilaris Atrophicans Faciei With Genetic Testing Insights
Genetic testing can help diagnose skin conditions but needs more research for full effectiveness.
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 Sebaceous Gland, Hair Shaft, and Epidermal Barrier Abnormalities in Keratosis Pilaris with and without Filaggrin Deficiency
Keratosis pilaris is often linked to genetic mutations and causes skin and hair abnormalities, regardless of those mutations.
research Treatment of Keratosis Pilaris With 810-nm Diode Laser
The 810-nm diode laser improves skin texture in keratosis pilaris but not redness.
research Ichthyosis Follicularis Alopecia and Photophobia Syndrome: Transient Improvement with Oral Isotretinoin
Oral isotretinoin temporarily improved skin symptoms in a child with IFAP syndrome.
research A Novel Mutation in the MBTPS2 Gene Resulting in Ichthyosis Follicularis, Atrichia, and Photophobia Syndrome
A new mutation in the MBTPS2 gene causes a mild form of IFAP syndrome.
research Ichthyosis Follicularis, Alopecia, and Photophobia Syndrome in a Saudi Child: A Case Report
An 8-year-old Saudi boy was diagnosed with a rare genetic disorder causing hair loss, skin issues, and light sensitivity.
research Inherited Ichthyosis: Syndromic Forms
Understanding the genetics of rare inherited ichthyosis syndromes is key for better treatments and genetic counseling.
research A Brazilian Case of IFAP Syndrome With Severe Congenital Ichthyosis and Limb Malformations Caused by a Rare Variant in MBTPS2
A Brazilian male with IFAP syndrome has a unique genetic variant causing his condition.
research A Rare Case of Woolly Hair with Unusual Associations
The document reports a unique case of woolly hair with a combination of conditions not previously seen together.
research Alopecia: A Pathologist's View
The review concludes that accurate diagnosis of different types of hair loss requires proper biopsy techniques and understanding the hair growth cycle and underlying causes.
research A Histologic Review of 27 Patients with Lichen Planopilaris
The conclusion is that certain scalp tissue changes are characteristic of lichen planopilaris, with mucinous perifollicular fibroplasia being a new feature for diagnosis.
research Sebaceous Gland Loss and Inflammation in Scarring Alopecia: A Potential Role in Pathogenesis
Loss of sebaceous glands and inflammation may contribute to the development of scarring alopecia.
research Primary Scarring Alopecias
The document concludes that primary scarring alopecias cause permanent hair loss, have unpredictable outcomes, and lack definitive treatments, requiring personalized care.
research Cicatricial Alopecia: Overview and Treatment Recommendations
Permanent hair loss from cicatricial alopecia is treated by reducing inflammation and managing symptoms, but regrowth in scarred areas is unlikely.
research Primary Scarring Alopecia: Clinical-Pathological Review of 72 Cases and Literature Review
The conclusion is that primary scarring alopecia is a complex condition that requires early and accurate diagnosis for effective treatment.
research A Clinical and Histopathological Study of Cicatricial Alopecia
Lichen planopilaris is the most common type of scarring hair loss observed, with a variety of symptoms and tissue changes.
research Congenital Atrichia Associated with Situs Inversus and Mesocardia
A 2-year-old boy had no hair and unusual organ placement, and it's unclear if it's genetic or coincidental.
research Cicatricial Alopecia: Early Diagnosis and Treatment Strategies
Early diagnosis and aggressive treatment are crucial for Cicatricial Alopecia, and treatment effectiveness varies among patients.
research Inherited Disorders of the Hair
The document explains the genetic causes and characteristics of inherited hair disorders.
research Perturbations in Fatty Acid Metabolism and Collagen Production Infer Pathogenicity of a Novel MBTPS2 Variant in Osteogenesis Imperfecta
A new MBTPS2 gene variant disrupts fat metabolism and collagen production, causing Osteogenesis imperfecta.
research Cicatricial Alopecias: Diagnosis and Treatment Complexities
The document concludes that more research is needed to better understand and treat scarring hair loss conditions.