research Bloch-Sulzberger Syndrome: A Rare X-Linked Dominant Genetic Disorder in a Newborn
Early diagnosis of Bloch-Sulzberger Syndrome is crucial to prevent severe complications.
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810-840 / 1000+ results research Inborn Errors of Biotin Metabolism
Two enzyme defects in biotin metabolism cause severe skin, hair, and metabolic issues.
research Ichthyosis with confetti: a rare diagnosis and treatment plan
A rare skin disorder, Ichthyosis with confetti, has no cure but treatment focuses on managing symptoms with moisturizers.
research 1345 A single-cell RNA map of perinatal developing mouse skin
The research mapped gene activity in developing mouse skin and found key markers for skin cell types and changes from fetal to early postnatal stages.
research Epidermal expression of the truncated prelamin A causing Hutchinson-Gilford progeria syndrome: effects on keratinocytes, hair and skin
Progerin affects cell shape but not hair or skin in mice.
research British Society for Paediatric Dermatology Annual Meeting, Sheffield, 18-19 November 2016
The meeting highlighted the importance of genetic testing and multidisciplinary approaches in pediatric dermatology.
research The Appearance of Four Basement Membrane Zone Antigens in Developing Human Fetal Skin
research Ectodermal Dysplasia: Variable Expressions
Early diagnosis and multidisciplinary care are crucial for improving the quality of life in patients with ectodermal dysplasia.
research Porokeratotic Eccrine Ostial and Dermal Duct Nevus: A Report of Rare Late-Onset Solitary Lesion
A rare skin lesion in a 64-year-old woman was successfully treated with a laser, showing minimal redness and no return after one month.
research Disturbed Epidermal Structure in Mice with Temporally Controlled Fatp4 Deficiency
Fatp4 is crucial for healthy skin development and function.
research Giant folliculosebaceous cystic hamartoma
A 15-year-old boy had a rare skin growth on his buttock.
research Alopecia Totalis/Universalis
Alopecia totalis/universalis is a severe form of hair loss where all body hair is lost.
research Dermatological Manifestations of Down's Syndrome
People with Down's syndrome often have more skin problems due to a weak immune system.
research P78 Acrodermatitis enteropathica in children: clinical cases
Zinc supplements and genetic analysis help treat acrodermatitis enteropathica in children.
research Mutations in AEC syndrome skin reveal a role for p63 in basement membrane adhesion, skin barrier integrity and hair follicle biology
Mutations in the p63 gene affect skin adhesion, barrier integrity, and hair growth.
research A Rare Presentation of Biotinidase Deficiency Mimicking Acrodermatitis Enteropathica in a Toddler
Biotinidase deficiency can mimic other conditions, making early diagnosis and treatment crucial to prevent lasting issues.
research Ptosis in childhood
Childhood ptosis can vary from a minor cosmetic issue to a serious condition and may signal other health problems.
research Twenty nail dystrophy with alopecia areata in an atopic child
A child with rough nails also had hair loss and allergies.
research 20th Annual Symposium of the British Society of Paediatric Dermatology, 11-12 November 2005, Newcastle upon Tyne, U.K.
The document reports unique growth lines in a child after Stevens-Johnson syndrome, skin reaction from parsnips and sun in a girl, and itchy skin with xanthomas in a boy with Alagille syndrome.
research Unveiling the Roots of Monogenic Genodermatoses: Genotrichoses as a Paradigm
New gene identification techniques have improved the understanding and classification of inherited hair disorders.
research Clinical report of a Holstein's calf with ichthyosis.
A Holstein calf in Iran with a severe genetic skin disorder was euthanized due to incurable symptoms.
research Primary Cicatricial Alopecias
Early diagnosis and aggressive treatment are key for managing rare scalp disorders that cause permanent hair loss.
research Dermatitis cruris pustulosa et atrophicans
DCPA is a chronic skin condition affecting the lower limbs, mainly in men, with unclear causes and treatments that often don't work well.
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 Alopecia areata in a Patient with Candidiasis-Endocrinopathy Syndrome: Unsuccessful Treatment Trial with Diphenylcyclopropenone
The treatment for alopecia areata with diphenylcyclopropenone was unsuccessful.
research Familial and Sporadic Porphyria Cutanea Tarda
Most patients with Porphyria Cutanea Tarda had skin blisters and were often affected by hepatitis C and alcohol abuse, with differences between familial and sporadic cases.
research Athena: Specialty Certificate Examination case for general dermatology and dermatology in primary healthcare
Alopecia areata has a high chance of persisting and relapsing, with a significant risk of total hair loss, especially if it starts in childhood.
research Dermatologic manifestations of endocrine disorders
Skin problems can be signs of hormone-related disorders and recognizing them early is important for treatment.
research Mutations in KLHL24 Add to the Molecular Heterogeneity of Epidermolysis Bullosa Simplex
Mutations in the KLHL24 gene cause skin blistering in epidermolysis bullosa simplex.
research NonClassic Congenital Adrenal Hyperplasia
NonClassic Congenital Adrenal Hyperplasia is a less severe form of a genetic disorder affecting adrenal gland function.