"Degos disease"

Atrophic papulosis (Köhlmeier-Degos disease) in children and adolescents - a cross-sectional study and literature review. Atrophic papulosis (Köhlmeier-Degos disease, Degos disease) is a rare thrombo-obliterative microangiopathy of unknown pathogenesis. It usually affects people between the ages of 20 and 50. However, it can occur at any age. The condition is considered uncommon in children . Clinical characterization of pediatric patients with atrophic papulosis. Single-center prospective cohort study with data derived from the international Degos Disease Registry collected between 2000 and 2021. Among 96 registered patients with atrophic papulosis fulfilling the criteria, 19 were aged 0 to completed 17 years at the time of onset. The median age at the time of onset was 5 years, ranging from

A loss-of-function NCSTN mutation associated with familial Dowling Degos disease and hidradenitis suppurativa. Dowling Degos disease (DDD) is a rare autosomal dominant genodermatosis characterized by acquired, slowly progressive reticulated pigmented lesions primarily involving flexural skin areas. Mutations in KRT5, POGLUT-1 and POFUT-1 genes have been associated with DDD, and loss-of-function

Inflammation and thrombo-occlusive vessel signalling in benign atrophic papulosis (Köhlmeier-Degos disease). Although the merely cutaneous, benign form of the extremely rare disease atrophic papulosis (Köhlmeier-Degos disease) may occasionally develop into the systemic, malignant form with time, it is unclear whether it exhibits any systemic characteristics. To determine whether benign atrophic

Atrophic papulosis (Köhlmeier-Degos disease) revisited: a cross-sectional study on 105 patients. Atrophic papulosis is a very rare vascular disease of unknown pathogenesis, mostly described by case reports. To assess demographic data and prognosis in patients with atrophic papulosis. A single-centre study was performed on a series of 105 patients with atrophic papulosis, diagnosed 2000-2021

Comorbid acne inversa and Dowling-Degos disease due to a single NCSTN mutation - is there enough evidence?: reply from the authors.

Comorbid acne inversa and Dowling-Degos disease due to a single NCSTN mutation - is there enough evidence?

Mast Cell Activation in Dowling-Degos disease.

Dowling-Degos Disease and Hidradenitis Suppurativa. Epidemiological and Clinical Study of 15 Patients and Review of the Literature.

Vesicular variant of Dowling-Degos disease.

A new nonsense mutation in the POGLUT1 gene in two sisters with Dowling-Degos disease.

Baricitinib in the Treatment of Kohlmeier-Degos Disease in Patients With Neurological Involvement Background: Kohlmeier-Degos (KD) is a rare disease that causes inflammation and blood clots, leading to blockages in small blood vessels. These blockages can result in K-D lesions throughout the body, affecting the skin, lungs, heart, spinal cord, and brain. KD can be fatal. No treatment exists the samples to NIH; 2 visits may be done via telehealth.... Study Description: This phase II study will provide off-label baricitinib treatment in patients with Kohlmeier Degos disease (K-D) with neurologic involvement. We will perform a baseline research evaluation at the time of enrollment and follow each patient for 12 weeks of background therapy (defined as medications taken by the subject

Benign atrophic papulosis (Köhlmeier-Degos disease): The wedge-shaped dermal necrosis can resolve with time. Atrophic papulosis is a rare thrombo-occlusive disease, characterized by the appearance of multiple atrophic porcelain-white skin papules, with a surrounding erythematous rim, which are histologically consisting of wedge-shaped necrosis of the dermis. It consists of two variants: (i

A phenotype combining hidradenitis suppurativa with Dowling-Degos disease caused by a founder mutation in PSENEN. Dowling-Degos disease (DDD), featuring reticulate pigmentation, and familial hidradenitis suppurativa (HS) share many clinical features including autosomal dominant inheritance, flexural location and follicular defects. The coexistence of the two disorders was recently found

Novel POFUT1 mutation associated with hidradenitis suppurativa-Dowling Degos Disease firm up a role for Notch signalling in the pathogenesis of this disorder: reply from authors.

Novel POFUT1 mutation associated with hidradenitis suppurativa-Dowling Degos Disease firm up a role for Notch signalling in the pathogenesis of this disorder.

Dowling-Degos disease with mutation in the exon 1 of the keratin 5 gene.

Degos disease, not just a scar: lethal outcome inspite of immunomodulatory therapy.

Mutations in γ-secretase subunit–encoding PSENEN underlie Dowling-Degos disease associated with acne inversa Dowling-Degos disease (DDD) is an autosomal-dominant disorder of skin pigmentation associated with mutations in keratin 5 (KRT5), protein O-fucosyltransferase 1 (POFUT1), or protein O-glucosyltransferase 1 (POGLUT1). Here, we have identified 6 heterozygous truncating mutations in PSENEN

Mutations in POGLUT1 in Galli-Galli /Dowling Degos-Disease.

A case of Degos disease in pregnancy Degos disease is characterized as a rare systemic vaso-occlusive disorder, although the exact pathophysiology is uncertain. Fewer than 200 patients have been reported in the literature, and only two reports describe the course of the disease during pregnancy. Here, we present the first reported case of the course of pregnancy in a woman with the systemic form of Degos disease. The patient had been diagnosed with Degos prior to pregnancy and was monitored throughout the duration of the pregnancy. Her presentation and treatment are described. There was no further exacerbation secondary to the pregnancy itself; the pregnancy course was uncomplicated and the baby unaffected to date.