research A 9-month-old infant with severe scalp dermatosis
The infant likely has Hay-Wells syndrome and needs genetic testing and heart screening.
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research 190 Deficiency of the Human Cysteine Protease Inhibitor Cystatin M/E Causes Hypotrichosis and Dry Skin
Not having enough cystatin M/E protein causes less hair growth and dry skin.
research Spiny keratoderma ‐ a demonstration of hair keratin and hair type keratinization
Spiny keratoderma may be ectopic hair formation on palms and soles.
research A Rare Case of Keratosis Follicularis Spinulosa Decalvans Affecting a Female Child
A girl with a rare skin condition called Keratosis Follicularis Spinulosa Decalvans showed no significant improvement with treatment.
research Cutaneous Manifestations in Thyroid Disorders
Skin changes can help predict thyroid diseases.
research Multiple, hereditary dome-shaped papules and acrochordons. Birt-Hogg-Dube syndrome
The boy likely has a fungal infection causing hair loss.
research Avian-Inspired Analogies in Dermatology
Bird-related analogies help explain and remember skin conditions better.
research Phylloid terminal hair nevus: A unique clinical entity
A baby had a unique skin condition with a pale patch and surrounding dark hairs, not linked to other health issues.
research Erythromelanosis Follicularis Faciei et Colli: A Case Report
Erythromelanosis follicularis faciei et colli (EFFC) is a rare pigmentary disorder characterized by erythema, hyperpigmentation, and follicular keratotic papules, primarily affecting young adults and teenagers. This case report discusses a 16-year-old female with a 3-year history of progressive discoloration and lesions on her cheeks and upper arms, with a possible hereditary link. The condition is often associated with keratosis pilaris and presents significant cosmetic concerns. Accurate diagnosis is crucial for avoiding unnecessary tests and providing effective patient counseling and cosmetic care, despite limited treatment options.
research Netherton's Syndrome.
A 7-year-old girl was diagnosed with Netherton's Syndrome, shown by skin and hair symptoms.
research Erythromelanosis follicularis faciei et colli with reticulated hyperpigmentation of the extremities
A rare skin condition causes red and dark patches on the face and limbs.
research Pathology in Practice
Three related Persian cats have a rare, likely hereditary skin condition causing hair loss and poor coat quality, with limited treatment options.
research A Scandinavian case of skin fragility, alopecia and cardiomyopathy caused byDSPmutations
A child with skin and heart issues had rare genetic mutations affecting skin and heart cell cohesion.
research Homozygous Nonsense Mutation in DSC3 Resulting in Skin Fragility and Hypotrichosis
A boy's skin fragility and sparse hair were caused by a genetic mutation affecting skin cell adhesion.
research Scaling dermatosis in three dogs associated with abnormal sebaceous gland differentiation
Three dogs with a rare skin condition improved with treatment.
research Psoriasiform Lesions and Abscesses as Initial Manifestations of Severe Hypothyroidism in a Previously Healthy 15‐Year‐Old Girl
Severe hypothyroidism can cause unusual skin problems that improve with thyroid treatment.
research Dermatoscopy case of the month: Trichodysplasia spinulosa
A man with a weakened immune system was diagnosed with a rare skin condition called trichodysplasia spinulosa using skin examination techniques.
research Lanceolate hair-J (lahJ): a mouse model for human hair disorders [In Process Citation]
The lanceolate hair-J mutation in mice helps understand human hair disorders like Netherton's syndrome.
research Trachyonychia with juvenile pityriasis rubra pilaris
A young boy with a rare skin and nail condition improved significantly with simple topical treatments.
research Trichothiodystrophy: Review of sulfur-deficient brittle hair syndromes and association with the ectodermal dysplasias
research A New Case of Isolated Trichothiodystrophy
A rare case of isolated trichothiodystrophy was identified, marked by brittle hair with low sulfur content.
research Widespread erythematous scaly eruption in an infant with phenylketonuria
Restoring phenylalanine levels improved skin and hair symptoms in a PKU infant.
research Congenital atrichia with papular lesions
Congenital atrichia with papular lesions causes permanent hair loss and skin bumps due to a gene mutation.
research GEOGRAPHIC TONGUE IN TWO CHILDREN WITH NONPUSTULAR PSORIASIS
Fox Fordyce disease might be more common in prepubertal girls than thought and can be managed with treatment.
research Ashy Dermatosis
Ashy dermatosis may be linked to atopy and thyroid disease and can be treated with topical steroids.
research Lanceolate hair-J (lahJ ): A mouse model for human hair disorders
The Lanceolate hair-J mutation in mice mimics human hair disorders like Netherton's syndrome.
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 PA05 A rare case of cardiocutaneous syndrome in a young child
A child with skin and tooth symptoms was found to have a genetic mutation causing cardiocutaneous syndrome, leading to heart problems.
research Lichen Spinulosus: Case Report and Review of Literatures
A 12-year-old boy's rare skin condition improved with topical treatments and may resolve by puberty.
research Pearly Pinna Papules in a Young Female
The young woman has a benign, hereditary skin condition with no signs of a more serious syndrome.