research A Mosaic Hotspot PLCD1 Variant, Detectable in Blood‐Derived DNA, Associated With Nevus Trichilemmocysticus
A rare genetic variant linked to skin cysts was found in blood DNA, suggesting its role in cyst formation.
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research Scarring Alopecia With Coexisting Lichen Planus in a Child: A Rare Phenomenon
A child had a rare case of scarring hair loss with skin disease, which is hard to treat and stressful.
research Becker’s Nevus in a Male: A Case Report
A 21-year-old male has a benign skin condition called Becker's nevus, which he chose not to treat.
research Line-Field Optical Coherence Tomography: Usefulness in the Non-Invasive Differential Diagnosis of Congenital Alopecia of Infancy
LC-OCT helps accurately diagnose different types of infant hair loss without invasive methods.
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 Perifollicular Melanocyte Regeneration in Bullous Pemphigoid
Melanocytes can regenerate around hair follicles in bullous pemphigoid, especially in patients with darker skin.
research Cutaneous manifestations of systemic lupus erythematosus in Pakistani children
Children with systemic lupus erythematosus have different skin symptoms than adults.
research Scarring Alopecia in Classic Adult Type I Pityriasis Rubra Pilaris
research Disorders of Keratinization
Understanding genetic mutations helps diagnose and treat skin disorders like ichthyosis.
research A Heritable Keratinization Defect of the Superficial Epidermis in Norfolk Terriers
Norfolk Terriers have a genetic skin defect causing scaling and blisters due to a keratin issue.
research Netherton Syndrome in a 9-Month-Old Child: Unraveling a Complex Dermatologic Disorder
Early diagnosis and comprehensive management improve life quality for Netherton syndrome patients.
research Diffuse plate-like sheets of desquamation
The rash resolved after stopping ponatinib.
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.
research 162 A review of the clinical and histopathological characteristics of patients with subepidermal blistering disorders presenting to a tertiary care centre in India
Most patients with blistering skin disorders in South India had bullous pemphigoid and often had other conditions like hypertension and diabetes.
research Vitiligo – Study In view of familial occurence
Vitiligo often runs in families and is linked to genetics and autoimmune factors.
research Androgenic pattern presentation of scarring and inflammatory alopecia
Many people diagnosed with androgenic alopecia might actually have hidden scarring or inflammation.
research A Case of Congenital Alopecia Areata Successfully Diagnosed by Integrating Clinical, Trichoscopic, and Scalp Biopsy Findings
Scalp biopsies are essential for diagnosing congenital alopecia areata.
research Spiny Keratoderma
Spiny keratoderma is a rare skin condition with small spines on palms and soles, possibly linked to abnormal hair formation.
research Pityriasis rubra pilaris
Pityriasis rubra pilaris is a rare skin disorder with reddish-orange patches and thickened skin, needing better treatment understanding.
research Cicatrising Alopecias.
Pseudopelade is likely an independent disease due to its distinct features.
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 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 An Infant with Worsening Rash
The rash on the infant indicated a serious underlying condition.
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 Berardinelli–Seip syndrome
Early diagnosis and treatment are crucial for managing Berardinelli–Seip syndrome.
research Beyond Acne: Unmasking a Varioliform Scar in an Adolescent Boy
A 16-year-old boy's facial condition improved with doxycycline, suggesting an immune response to hair follicle damage.
research Punctate Follicular Porokeratosis
Punctate follicular porokeratosis is a skin condition with specific features seen in hair follicles.
research Case of non-Herlitz junctional epidermolysis bullosa withCOL17A1mutation
Genetic testing is crucial for diagnosing and managing non-Herlitz junctional epidermolysis bullosa.
research Olmsted syndrome
Olmsted syndrome is a rare skin disorder causing thickened skin and other symptoms.
research Ichthyosis
The document concludes that accurate diagnosis of ichthyosis is crucial for treatment and genetic advice, and ongoing research is needed for better therapies.