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Dowling-Degos Disease Type 1



  • 1 Whole exome sequencing in a multi-generation family from India reveals a genetic variation c.10C>T (p.Gln4Ter) in keratin 5 gene associated with Dowling-Degos disease. ( 29600799 ) 2018 2 Atypical presentation of Dowling-Degos disease with novel[malacards.org]
  • The authors describe an interesting patient with an overlap presentation of both disorders. A 57-year-old Hispanic woman presented with a nearly 40-year history of multiple hyperpigmented macules on her hands, feet, trunk, axilla, and groin.[jcadonline.com]
  • It presents a late onset with benign evolution; nevertheless, it is extremely unaesthetic.[medcraveonline.com]
  • (A report of a family with generalized hyperpigmentation and hypopigmentation as the presentation of Dowling-Degos disease.) Zhang, RZ, Zhu, WY. “A study of immunohistochemical and electron microscopic changes in Dowling-Degos disease”.[infectiousdiseaseadvisor.com]
  • […] xvi ページ - The Rombo syndrome: a familial disorder with vermiculate atrophoderma, milia, hypotrichosis, trichoepitheliomas, basal cell carcinomas and peripheral vasodilation with cyanosis.[books.google.com]
  • […] pigmentation is more confluent and there are pronounced velvety textural changes Confluent and reticulated papillomatosis – differs in that the distribution is more truncal and less flexural Neurofibromatosis, type I – neurocutaneous syndrome of which axillary freckling[infectiousdiseaseadvisor.com]
  • Increased pigmentation Freckle-like pigmentation usually first appears in early adult life in the great folds of the skin such as armpits, groin, between and under the breasts.[dermnetnz.org]
Follicular Plugging
  • These features include –Irregular acanthosis of the rete ridges –Increased melanin (with normal melanocyte counts) at the tips of the rete ridges –Follicular plugging Diagnosis confirmation Other diagnoses to consider include Haber syndrome – rare syndrome[infectiousdiseaseadvisor.com]
  • (h) Skin biopsy from the proband (III-3) of family 1 showed dilated hair follicle with follicular plugging and perifollicular acanthosis with downward elongations of rete ridges in a reticulated pattern, which resembled Dowling-Degos disease (H and E,[cmj.yiigle.com]
Axillary Freckling
  • freckling (Crowe’s sign) is a major feature.[infectiousdiseaseadvisor.com]
  • Crowe FW: Axillary freckling as a diagnostic aid in neurofibromatosis. Ann Intern Med 1964;61:1142–1143. Amer M, Mostafa FF, Nasr AN: Lentiginous macules and patches of neurofibromatosis (an approach to better terminology).[karger.com]
  • […] and isolated split handfoot malformation suggest a genotype-phenotype correlation. ‎ 151 ページ - Follicular keratosis and verrucous lesions on the extensor surfaces of the arms and legs and on the buttocks (36%) (Figures 11.5 and 11.6) • Palmopiantar hyperhidrosis[books.google.com]
  • Stimulation of the thyrotropin receptor in hyperthyroidism results in mesenchymal tissue proliferation and consequent pretibial myxedema; other associated cutaneous features include onycholysis, and hyperhidrosis.[science.gov]


Pelger-Huet Anomaly
  • Mandibuloacral dysplasia Dunnigan Familial partial lipodystrophy Emery–Dreifuss muscular dystrophy 2 Limb-girdle muscular dystrophy 1B Charcot–Marie–Tooth disease 2B1 LMNB Barraquer–Simons syndrome LEMD3 Buschke–Ollendorff syndrome Osteopoikilosis LBR PelgerHuet[en.wikipedia.org]
  • X-linked myopathy with excessive autophagy Amelogenesis imperfecta local hypoplastic Congenital toxoplasmosis Charcot-Marie-Tooth disease Ring chromosome 20 Spondyloepimetaphyseal dysplasia Missouri type BOR-Duane hydrocephalus contiguous gene syndrome Pelger-Huet[checkrare.com]


  • Treatment Options 1. Observation and reassurance 2.[infectiousdiseaseadvisor.com]
  • Stay at the forefront of your field with updated treatment methods throughout, as well as an increased focus on patients with skin of color.[books.google.com]


  • Carcinoma, Ductal Overexpression of Pofut1 and activated Notch1 may be associated with poor prognosis in breast cancer.[brenda-enzymes.org]
  • Prognosis Due to the markedly different prognosis between the apparently idiopathic cutaneous disease and MAP with systemic involvement, the first variant - in contrast to the latter "malignant" one - has been termed "benign atrophic papulosis" by some[ojrd.biomedcentral.com]
  • […] evaluations, depending on which organs are suspected to be involved, the following procedures and tests may be conducted: skin inspection, brain magnetic resonance tomography, colonoscopy, chest X-ray, and/or abdominal ultrasound. [1] Treatment and prognosis[en.wikipedia.org]


  • Grover disease (GD) is a sporadic papular condition of uncertain etiology that presents most often in sun-damaged skin. Intractable pruritus is common.[accessmedicine.mhmedical.com]
  • Etiology and pathogenesis The etiology of MAP remains unexplained. There is a whole series of hypotheses but none of them could be proven yet.[ojrd.biomedcentral.com]
  • […] counseling,gene testing,genome,hereditary family history,future of medicine,Disease and Gene Association,congenital,heritable disorders,inherited disorders,heritable diseases,inherited diseases Lichen nitidus is a chronic inflammatory disease of unknown etiology[findzebra.com]
  • Reviews addressing the etiology of vitiligo suggest that vitiligo is probably a heterogeneous disease encompassing multiple etiologies.47,48 An immune-mediated pathogenesis is the most popular theory.[what-when-how.com]
  • (Etiology) Dowling-Degos Disease is most commonly inherited from a single parent (in an autosomal dominant manner); however, the condition may also develop sporadically.[dovemed.com]


  • Relevant External Links for POFUT1 Genetic Association Database (GAD) POFUT1 Human Genome Epidemiology (HuGE) Navigator POFUT1 Atlas of Genetics and Cytogenetics in Oncology and Haematology: POFUT1 No data available for Genatlas for POFUT1 Gene Modification[genecards.org]
  • The epidemiologic pattern of MS has raised inevitable comparison with polio- myelitis.[docslide.com.br]
  • Meesmann corneal dystrophy Synonym(s): - Reticular pigment anomaly of flexures Classification (Orphanet): - Inborn errors of metabolism - Rare genetic disease - Rare skin disease Classification (ICD10): - Diseases of the skin and subcutaneous tissue - Epidemiological[csbg.cnb.csic.es]
  • This report defines the prevalence of genital colonization in a large population of women, characterizes the women with S. aureus, and describes epidemiologic features of genital carriage. ‎ Página 50 - Lautenschlager S, Eichmann A.[books.google.es]
  • Immunodeficiency due to an early component of complement deficiency Reticular dysgenesis Synonym(s): - UIP - Usual interstitial pneumonia Classification (Orphanet): - Rare respiratory disease Classification (ICD10): - Diseases of the respiratory system - Epidemiological[csbg.cnb.csic.es]
Sex distribution
Age distribution


  • Etiology See Pathophysiology. Dowling-Degos disease (reticulate pigmented anomaly) may coexist with hidradenitis suppurativa.[emedicine.medscape.com]
  • Etiology See Pathophysiology . Dowling-Degos disease (reticulate pigmented anomaly) may coexist with hidradenitis suppurativa .[emedicine.medscape.com]
  • The 3 most reasonable suggested hypotheses about the pathophysiology of the disease are vasculitis, coagulopathy and primary dysfunction of the endothelial cells[ 27 ].[ojrd.biomedcentral.com]
  • "Degos Disease: Background, Pathophysiology, Epidemiology". 2017-02-07. a b De Breucker S, Vandergheynst F, Decaux G (2008). "Inefficacy of intravenous immunoglobulins and infliximab in Degos' disease".[en.wikipedia.org]


  • Collaborative Meta-Analysis of Randomised Trials of Antiplatelet Therapy for Prevention of Death, Myocardial Infarction, and Stroke in High Risk Patients. ‎[books.google.es]
  • How can Dowling-Degos Disease be Prevented? Currently, there are no specific methods or guidelines to prevent Dowling-Degos Disease, since it is a genetic condition.[dovemed.com]
  • Atlanta: Centers for Disease Control and Prevention, September 1995. ‎ Página 51 - Stone KM, Reiff-Eldridge R, White AD, Cordero JF, Brown Z, Alexander ER, Andrews EB.[books.google.es]
  • RESULTS: Reformed in 2005, the Organic Law on Prevention, Conditions and Environment (LOPCY-MAT) was a fundamental moment of change for OSH.[pubfacts.com]

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