Results 11 to 20 of about 10,846 (194)

Congenital Erosive and Scarring Eruption (CEASE): A Report of Two Cases and Review of the Literature on Congenital Erosive and Vesicular Dermatosis. [PDF]

Pediatr Dermatol
ABSTRACT Congenital erosive and vesicular dermatosis (CEVD) is a rare condition that typically presents at birth with erosions and vesicles that heal with distinctive reticulate and supple scarring. We report two cases of CEVD in term infants, both of which exhibited unique features.
Moxham L, Felton S, Lam JM.
europepmc   +2 more sources

Incontinentia Pigmenti

Journal of Cutaneous Medicine and Surgery
Incontinentia pigmenti (IP) is a rare X-linked dominant, multi-system genetic disorder characterized by evolving skin lesions that occurs almost exclusively in females. Additional manifestations most often involve embryologically-derived ectodermal tissues including the central nervous system (CNS), eyes, hair, teeth and nails.
Li-Wen Zhang, Juan Wu
  +8 more sources

Incorporating Nanopore Sequencing Into a Diverse Diagnostic Toolkit for Incontinentia Pigmenti. [PDF]

Hum Mutat
Incontinentia pigmenti (IP) is a rare hereditary disorder affecting 1.2 in 100,000 live births, predominantly females. Genetic analysis of IP is complicated by a homologous pseudogene, making conventional short‐read sequencing challenging. While long‐range PCR is typically used to overcome this, skewed X‐inactivation detection can also aid in assigning
Ahting S, Popp D, Oppermann H, Strehlow V, Fasshauer M, Popp B, Karnstedt M, Schumann I.   +7 more
europepmc   +2 more sources

Narrowing the Differential: A Unique Case of Dystrophic Epidermolysis Bullosa. [PDF]

Case Rep Pediatr
Dystrophic epidermolysis bullosa (DEB) is a rare inherited skin disorder characterized by mechanical stress‐induced blistering and skin erosion. Diagnosis is confirmed through molecular genetic testing, typically identifying mutations in the COL7A1 gene. DEB can mimic other neonatal dermatologic conditions, making early identification challenging.
Yacobucci L, Edwards C, Oosbree AV, Newman R.   +3 more
europepmc   +2 more sources

Incontinencia pigmenti

Actas Dermo-Sifiliográficas, 2019
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

Total Hemi-overgrowth in Pigmentary Mosaicism of the (Hypomelanosis of) Ito Type: Eight Case Reports. [PDF]

, 2016
Pigmentary mosaicism of the (hypomelanosis of) Ito type is an umbrella term, which includes phenotypes characterized by mosaic hypopigmentation in the form of streaks, whorls, patchy, or more bizarre skin configurations (running along the lines of ...
Corsello G, Falsaperla R, Pavone P, Pavone V, Praticò AD, Ruggieri M, Savasta S, Sessa G, Signorelli SS   +8 more
core   +1 more source

Kapoyt/blu: alla scoperta della storia armena di un colore

Lanx, 2012
The study begins with an analysis of the semantics of the Armenian word kapoyt, blue, taking into account its different uses in Armenian literature, e.g.
Marco Bais
doaj   +1 more source

Bloch Sulzberger syndrome (Incontinentia pigmenti): A rare case report with dental defects

Journal of Indian Society of Pedodontics and Preventive Dentistry, 2015
Incontinentia Pigmenti (IP) is a multisystem genodermatosis characterized by cutaneous, neurologic, ophthalmologic, and dental abnormalities. This article reports the clinical features and management of a 4-year-old girl diagnosed with IP.
Yaga Uday Shankar, Nikhat Fatima, Menji Ashwini Kumar, Kesary Sathya Prakash   +3 more
doaj   +1 more source

Biodeterioration and chemical conservation of Bhimkichak Temple, Malhar, Chhattisgarh, India

Conservation Science in Cultural Heritage, 2012
Stone cultural heritage materials are at risk of bio-deterioration caused by diverse populations of microorganisms living in biofilms. The microbial metabolites of these biofilms are responsible for the deterioration of the underlying substratum and may ...
Sanjay Prasad Gupta, Kavita Sharma, B.S. Chhabra   +2 more
doaj   +1 more source

Two male patients with incontinentia pigmenti [PDF]

, 2010
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.
Medenica Ljiljana, Minić Snežana, Novotny Gerd E.K., Obradović Miljana, Stefanović Bratislav, Trpinac Dušan   +5 more
core   +1 more source