Results 41 to 50 of about 2,525 (203)
ABSTRACT Hypohidrotic ectodermal dysplasia (HED) is a rare congenital disorder characterized by abnormal development of ectodermal structures including hair, teeth, nails, and sweat glands. Dental manifestations such as anodontia or hypodontia can significantly impair mastication, speech development, facial esthetics, and psychosocial well‐being ...
Nazera Ahmadzai +5 more
wiley +1 more source
WHO classification of skin tumours: key updates in the fifth edition
This review article summarizes the key updates in the 5th edition of the WHO Classification of Skin Tumours. It provides an overview of the major changes and new entities specific to the skin section, covering areas such as epidermal, melanocytic, mesenchymal and other tumours. The 5th edition of the World Health Organization Classification of Tumours (
Gabrielle Goldman‐Lévy +29 more
wiley +1 more source
Corneal abnormalities associated with incontinentia pigmenti
PURPOSE: To report corneal abnormalities associated with incontinentia pigmenti.CASE REPORTS: Two girls, aged 2 1/2 and 5 years, with incontinentia pigmenti from one family underwent a complete ophthalmic examination.RESULTS: We found vortex (whorl-like)
Ferreira, Lisiane C. [UNIFESP] +3 more
core +1 more source
Two male patients with incontinentia pigmenti [PDF]
Background. Incontinentia pigmenti (IP) is a rare, complex, X-linked genodermatosis in which skin changes are combined with defects of other organs. It appears almost exclusively in females and is usually lethal in men.
Minić Snežana +5 more
doaj +1 more source
Incontinentia pigmenti (Bloch-Sulzberger syndrome) is a rare neuroectodermal dysplasia. It is an X-linked dominant disorder caused by mutations in the IKBKG/NEMO gene on Xq28. Approximately 80% of patients have a deletion of exons 4 to 10. Incontinentia pigmenti has an estimated incidence of 0.7 cases per 100,000 births.
CammarataScalisi F, Fusco F, Ursini M V
openaire +5 more sources
ABSTRACT Discoid lupus erythematosus (DLE) is the most common variant of cutaneous lupus. Histopathology remains the gold standard for diagnosis, but it carries a risk of scarring in a disease already prone to cicatricial outcomes. Additionally, diagnostic delays may occur due to variable processing times, particularly in challenging cases.
Vincenzo Maione +8 more
wiley +1 more source
Incontinentia pigmenti with encephalocele in a neonate: a rare association.
Incontinentia pigmenti is a rare, X-linked dominant multisystem genodermatosis affecting ectodermal and mesodermal tissues. After the skin, the central nervous system is the second-most affected system. We report a neonate with incontinentia pigmenti and
Demirel, Nihal +6 more
core +1 more source
genodermatosis with an estimated incidence of 0.7–1.2 per 100,000 live births. It is caused by mutations in the IKBKG gene. Affected women have a 50% chance of transmitting the defective gene, while male fetuses usually do not survive due to the lethal ...
Ninda Sari, Mikyal Bulqiah
doaj +1 more source
Incontinentia pigmenti presenting as hypodontia in a 3-year-old girl: a case report
Introduction Incontinentia pigmenti or Bloch-Sulzberger syndrome is a rare X-linked dominant disease that mainly affects the skin, eyes, hair, central nervous system and teeth. The disease is predominant among women.
Kitakawa Dárcio +4 more
doaj +1 more source
Incontinentia pigmenti or Bloch-Sulzberger syndrome: a rare X-linked genodermatosis [PDF]
Incontinentia pigmenti is a rare X-linked genodermatosis that affects mainly female neonates. The first manifestation occurs in the early neonatal period and progresses through four stages: vesicular, verruciform, hyperpigmented and hypopigmented ...
Gabriela Franco Marques +2 more
doaj +2 more sources

