Dowling degos disease is a rare condition inherited as autosomal dominant trait characterized by numerous, asymptomatic, symmetrical, progressive, small, roundpigmented macules over axillae and. Dowlingdegos disease clinical signs reticular hyperpigmentation of flexural areas cubital and popliteal fossae, axillae, lateral aspects of the neck, inguinae etc. Degos disease dd is a rare disorder of the blood vessels, wherein there is abnormal blockage of small and mediumsized arteries and veins. In the skin, degos disease initially manifests with erythematous, pink or red papules. Dowling degos disease ddd is a rare autosomal dominant inherited pigmentary disorder of the flexures with a reticulate aspect and with presence of prominent comedonelike lesions and pitted scars. Dowlingdegos disease find articles, health tips, questions and answers, videos, quizzes and more from top doctors and health experts related to dowlingdegos disease at. Over time comedolike lesions also appear on the back and neck, and perioral cribriform scars and follicular cysts. Those diagnosed with this disease may also develop complications due to impairment of internal organs. We also have a goal to create an international patient registry to better track and study all patients diagnosed with degos disease. Dowlingdegos disease ddd is a rare autosomal dominant disorder, classically.
Seborrhoeic keratosis in dowlingdegos disease, epithelial strands extend from the epidermis and hair follicles. Degos disease nord national organization for rare disorders. Feb 04, 20 dowling degos disease is characterized by a lacy or netlike reticulate pattern of abnormally dark skin coloring hyperpigmentation, particularly in the bodys folds and creases. Malignant atrophic papulosis an overview sciencedirect topics. This association might be more common, since both diseases are. Histopathology is diagnostic testing using a distinctive form of acanthosis. Dowling degos disease ddd is a rare genetic disease of the skin reticulate pigmented anomaly, clinically characterized by flexural brown pigmented reticulate macules, comedolike papules on. Mar 31, 2007 dowling degos disease with asymmetrical axillary distribution and no krt 5 exon 1 mutation akihiko asahina 1, norihisa ishii 2, hiromichi kai 1, mizuho yamamoto 1 and hideki fujita 1 1 department of dermatology, sagamihara national hospital, 181 sakuradai, sagamihara, 2288522 kanagawa, and 2 department of bioregulation, leprosy research. Dowling degos disease ddd was first described by dowling and freudenthal in 1938, then by degos and ossipowski in 1954. Epidermal changes in dowlingdegos disease include hyperkeratosis, often with small horn cysts and thinning of the suprapapillary epidermis. Few patients with reticulate pigmented anomaly, also known as dowling degos disease ddd, have been reported. The cutaneous lesions present as characteristic papules with porcelainwhite central atrophy and an erythematous raised border. Dowlingdegos diseasereticulated pigmented anomaly of.
Reticular pigmented anomaly of the flexures also known as dark dot disease, and dowlingdegos disease is a reticular pigmented anomaly of the flexures, an autosomaldominant pigmentary. Ddd symptoms, causes, diagnosis, and treatment information for ddd dowlingdegos disease with alternative diagnoses, fulltext book chapters, misdiagnosis, research treatments, prevention, and. Dowling degos disease ddd is a rare autosomaldominant genodermatosis characterized by reticulate pigmentation of flexures. Dowlingdegos disease and verneuils disease italian. Other clinical and histological features are identical to dowlingdegos disease. Individuals with this condition will develop papules. Dowlingdegos disease genetic and rare diseases information. The disease has been associated with hidradenitis suppurativa hs, also known as acne inversa,and.
Degos disease is an extremely rare disorder in which small and medium sized arteries become blocked occlusive arteriopathy, restricting the flow of blood to affected areas. Dowlingdegos disease with asymmetrical axillary distribution. American society of dermatopathology annual meeting, chicago, illinois, october 2016. This blockage results in cuttingoff of the blood supply to various tissues and organs in the body, leading to significant damage of the tissuesorgans. Dowlingdegos disease ddd was first described by dowling and freudenthal in 1938, then by degos and ossipowski in 1954. Dowlingdegos disease ddd is a rare genetic disease of the skin reticulate. Covering all aspects of skin disease from basic science through pathology and epidemiology to clinical practice, the text is recognized for its unparalleled coverage of diagnosis. We encourage all degos patients to share their stories to help physicians better understand the effects of degos disease on their patients. In 8 out of a series of 21 cases dowling degos disease was associated with verneuils disease chronic hidradenitis suppurativa. Dowling degos disease reticulate pigmented anomaly of the flexures.
Dec 10, 2019 degos disease occurs both in a limited benign, cutaneous form and in a potentially lethal multiorgan, systemic variant. Thin epithelial strands extend into the superficial dermis from the epidermis and hair follicles resulting in an antlerlike pattern figures 1, 2. The clinical presentation is very helpful in differentiating these conditions. Mitchell, in surgical pathology of the gi tract, liver, biliary tract, and pancreas second edition, 2009. Degos disease falls under the alternative appellation of malignant atrophic papulosis based on the fatal outcome that frequently characterizes its clinical course. Degos disease is a lethal small vessel angiopathy targeting the skin, gastrointestinal tract, and central nervous system, potentially developing in the setting of known autoimmune disease, although forme fruste primary variants exist. Dowlingdegos disease rooks textbook of dermatology. This chapter discusses the clinical features, histopathology, differential diagnosis of freckles and lentigines. Dowlingdegos disease ddd is a rare genetic disease of the skin reticulate pigmented anomaly, clinically characterized by flexural brown pigmented reticulate macules, comedolike. Galligalli disease ggd is a very rare variant of the dowling degos disease ddd with the histologic finding of focal acantholysis. Degos disease is a very rare form of illness that was first described by kohlmeier in the year 1941 and documented as a distinct form of illness by degos the same year.
It results in increased pigmentation in the armpits and groin, blackhead spots on the neck, and pitted acneliked scars on the chin. Dowlingdegos disease is a skin condition characterized by a lacy or netlike reticulate pattern of abnormally dark skin coloring hyperpigmentation, particularly in the bodys folds and creases. Benign tumors and cysts of the epidermis clinical gate. The diagnosis is made on the clinical features and confirmed on skin biopsy there are two histological pathological variants see dowlingdegos. Dowling first delineated this genodermatosis as a distinct entity in 1938. A rare acantholytic variant of dowlingdegos disease. Intimal proliferation of deepseated arterioles which causes infarcts degos disease. David weedon ao md frcpa fcaphon, in weedons skin pathology third edition, 2010. The histology of this group of conditions is considered diagnostic 1.
Feb 23, 2018 dowling degos disease ddd is a rare genetic condition of the skin that affects pigmentation. A clinical image atlas for entities throughout the text can be found in the online content for this book. Galligalli disease ggd is a very rare variant of the dowlingdegos disease ddd with the histologic finding of focal acantholysis. Dowlingdegos disease is a rare genetic disease of the skin that presents in adult. Reticular pigmented anomaly of the flexures also known as dark dot disease, and dowlingdegos disease is a fibrous anomaly of the flexures or bending parts of the axillae, neck and inframammarysternal areas 856 it is an autosomaldominant pigmentary disorder that may appear in adolescence or adulthood. This association might be more common, since both diseases are characterized by a single defect follicular occlusion and occur in similar cutaneous areas. Dowlingdegos disease, pigmented skin lesion, vulva. Degos disease, also known as kohlmeierdegos disease or malignant atrophic papulosis, is an extremely rare condition caused by blockage of arteries and veins.
It is characterized by acquired, slowly progressive pigmented lesions that primarily involve the great skin folds and flexural areas such as the axilla, neck, limb flexures, the inframammary. We are reporting two cases of ddd of follicular variety, a mother and her daughter, from a family in which 10 out of 16 individuals five males and five females were affected. Covering all aspects of skin disease from basic science through pathology and epidemiology to. Degos disease american journal of clinical pathology. The thin, branching, pigmented projections involved the infundibula of the follicles, which is characteristic of dowlingdegos disease. Aug 01, 2011 intimal proliferation of deepseated arterioles which causes infarcts degos disease. Dowling degos disease ddd is a rare genetic disease of the skin reticulate pigmented anomaly, clinically characterized by flexural brown pigmented reticulate macules, comedolike papules on the back, neck and pitted perioral or facial scars. A rare variant of an evolving dermatosis saurabh singh 1, sujay khandpur 1, parul verma 1, manoj singh 2 1 department of dermatology and venereology, all india. Dowling degos disease is a skin condition characterized by a lacy or netlike reticulate pattern of abnormally dark skin coloring hyperpigmentation, particularly in the bodys folds and creases. Ddd2 to ensure longterm funding for the omim project, we have diversified our revenue stream. Dowling degos disease reticulate pigmented anomaly of the flexures is an autosomal dominant condition.
The proband in the first family was a 49yearold woman with a 20year. Mutations in poglut1, encoding protein oglucosyltransferase 1, cause autosomaldominant dowlingdegos disease. It results in increased pigmentation in the armpits and groin, blackhead spots on the. Dowlingdegos disease is an autosomal dominant skin disorder characterised by progressive pigmentation of the skin within body folds. Dowling degos disease emedicine, dowling degos disease. Dowlingdegos disease is a skin condition characterized by a lacy or netlike reticulate pattern of abnormally dark skin coloring hyperpigmentation, particularly in the bodys folds and. Degos disease occurs both in a limited benign, cutaneous form and in a potentially lethal multiorgan, systemic variant. Reticular pigmented anomaly of the flexures also known as dark dot disease, and dowlingdegos disease is a fibrous anomaly of the flexures or bending parts of the axillae, neck and.
Galligalli disease is a subtype of dowlingdegos disease and is distinguished by the additional finding of nondyskeratotic acantholysis figure 3, arrow. Dowlingdegos disease ddd is a rare genetic disease of the skin reticulate pigmented anomaly, clinically characterized by flexural brown pigmented reticulate macules, comedolike papules on the. Treatment for dowlingdegos disease in chandigarh, find doctors near you. These skin changes typically first appear in the armpits and groin area and can later spread to other skin folds such as the crook of the elbow and back of the knee. Dowlingdegos disease is a rare genetic disease of the skin that presents in adult life with pigmentation, particularly in the folds of the skin. Since that time, approximately onehundred and thirty people have been diagnosed and documented through scientific literature. Jan 17, 2014 specifically, the chapter discusses the following diseases. Degos disease is a rare noninflammatory disease of the blood vessels that is characterized by a narrowing and blockage in small and medium sized arteries, leading to ischemia and tissue infarction. Many different treatments have been tried for this condition, but none has proven effective in eliminating the symptoms for all patients. Topical retinoic acids, topical steroids, hydroquinone, tretinoin, and systemic retinoids have been used without success. Tammie ferringer, md, dermatopathologist, geisinger. There was also a mild, superficial, dermal perivascular lymphocytic infiltrate with occasional pigment laden macrophages figures 3, 4.
Dowlingdegos disease ddd is a rare genetic condition of the skin that affects pigmentation. A 44yearold woman in good general health presented due to the recent appearance of numerous pigmented macules on her axillary and anogenital skin. Degos disease, the lentiginoses, mucosal lentigines, actinic solar lentigo, pigmented actinic keratosis, puva. A 44yearold woman in good general health presented due to the recent. Degos disease usually causes characteristic skin lesions that may last for a period of time ranging from weeks to years. Dowlingdegos disease ddd is also known as reticulate pigmented anomaly of the flexures, and this is a rare autosomal dominant genodermatosis that causes abnormal epidermal. In one patient with dowling degos disease, a biopsy from the axilla showed features of galligalli disease with suprabasal lacunae. Dowlingdegos disease dyschromatosis symmetrica hereditaria dyschromatosis universalis hereditaria. Malignant atrophic papulosis kohlmeierdegos disease malignant. In 1954, degos and ossipowski described a patient with a similar case.
Dowlingdegos disease with asymmetrical axillary distribution and no krt 5 exon 1 mutation akihiko asahina 1, norihisa ishii 2, hiromichi kai 1, mizuho yamamoto 1 and hideki fujita 1. Pdf dowlingdegos disease ddd is a rare autosomal dominant trait characterized by. May 07, 2019 we encourage all degos patients to share their stories to help physicians better understand the effects of degos disease on their patients. Dowling degos disease find articles, health tips, questions and answers, videos, quizzes and more from top doctors and health experts related to dowling degos disease at. Dowling degos disease is a rare condition inherited as autosomal dominant trait characterized by numerous, asymptomatic, symmetrical, progressive, small, roundpigmented macules over axillae and groins, face, neck, arms and trunk, scattered comedolike ncbi. This book is distributed under the terms of the creative commons. Dowlingdegos disease ddd is an autosomal dominant genodermatosis and this.
Reticular pigmented anomaly of the flexures wikipedia. Malignant atrophic papulosis degos disease is a rare, often fatal, multisystem vasoocclusive disorder in which pathognomonic skin lesions are frequently associated with infarctive lesions of other viscera, particularly the gastrointestinal tract. The purpose of this case report is to describe a case with only comedolike lesions without the typical flexural. Mar 23, 2018 degos disease dd is a rare disorder of the blood vessels, wherein there is abnormal blockage of small and mediumsized arteries and veins. Over time comedolike lesions also appear on the back and neck, and perio. Freckles and lentigines the melanocytic proliferations. Dowlingdegos disease ddd is a rare autosomal dominant inherited pigmentary disorder of the flexures with a reticulate aspect and with presence of prominent comedonelike lesions and pitted scars. Specifically, the chapter discusses the following diseases. Dowlingdegos disease presenting primarily with comedones and. Dowlingdegos disease a novel presentation of an uncommon. In the skin, degos disease initially manifests with erythematous, pink or. Malignant atrophic papulosis an overview sciencedirect.
Rooks textbook of dermatology is the most comprehensive work of reference available to the dermatologist. It is also known as pigmented reticulate anomaly of the flexures. Feb 04, 20 there is no cure for dowling degos disease. Dowlingdegos disease ddd is a rare genodermatosis primarily. Over time comedolike lesions also appear on the back and neck, and perioral cribriform. Dowling degos disease ddd is an autosomal dominant genodermatosis and this disease is a genetically determined disturbance of epidermal proliferation. The proband in the first family was a 49yearold woman with a 20year history of reticular hyperpigmentation that began on her neck and consisted of spots that gradually increased in number and size and showed deeper coloration, without subjective symptoms. May 23, 2019 dowling first delineated this genodermatosis as a distinct entity in 1938. In 8 out of a series of 21 cases dowlingdegos disease was associated with verneuils disease chronic hidradenitis suppurativa. A rare variant of an evolving dermatosis saurabh singh 1, sujay khandpur 1, parul verma 1, manoj singh 2 1 department of dermatology and venereology, all india institute of medical sciences, new delhi, india 2 department of pathology, all india institute of medical sciences, new delhi, india. These papules heal to leave scars with pathognomonic, central, porcelain white atrophic centers.