Galligalli disease ggd is a very rare variant of the dowling degos disease ddd with the histologic finding of focal acantholysis. Topical retinoic acids, topical steroids, hydroquinone, tretinoin, and systemic retinoids have been used without success. Malignant atrophic papulosis an overview sciencedirect. Dowlingdegos disease with asymmetrical axillary distribution. Over time comedolike lesions also appear on the back and neck, and perio. Lossoffunction mutations in the keratin 5 gene lead to dowling degos disease. Many different treatments have been tried for this condition, but none has proven effective in eliminating the symptoms for all patients. Degos disease dd is a rare disorder of the blood vessels, wherein there is abnormal blockage of small and mediumsized arteries and veins. These papules heal to leave scars with pathognomonic, central, porcelain white atrophic centers.
Seborrhoeic keratosis in dowlingdegos disease, epithelial strands extend from the epidermis and hair follicles. Dowlingdegos disease find articles, health tips, questions and answers, videos, quizzes and more from top doctors and health experts related to dowlingdegos disease at. 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. The cutaneous lesions present as characteristic papules with porcelainwhite central atrophy and an erythematous raised border. The histology of this group of conditions is considered diagnostic 1. Dowlingdegos disease ddd is a rare genodermatosis primarily. Over time comedolike lesions also appear on the back and neck, and perioral cribriform. Histopathology is diagnostic testing using a distinctive form of acanthosis. In the skin, degos disease initially manifests with erythematous, pink or. 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. Dowlingdegos disease and verneuils disease italian. David weedon ao md frcpa fcaphon, in weedons skin pathology third edition, 2010. The thin, branching, pigmented projections involved the infundibula of the follicles, which is characteristic of dowlingdegos disease. 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.
Benign tumors and cysts of the epidermis clinical gate. The proband in the first family was a 49yearold woman with a 20year. It is also known as pigmented reticulate anomaly of the flexures. Thin epithelial strands extend into the superficial dermis from the epidermis and hair follicles resulting in an antlerlike pattern figures 1, 2. 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. Dowling degos disease with mutations in pofut1 is clinicopathologically distinct from reticulate acropigmentation of kitamura. Dowlingdegos disease ddd is an autosomal dominant genodermatosis and this. Individuals with this condition will develop papules.
Galligalli disease ggd is a very rare variant of the dowlingdegos disease ddd with the histologic finding of focal acantholysis. Degos disease, the lentiginoses, mucosal lentigines, actinic solar lentigo, pigmented actinic keratosis, puva. 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. 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. 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. Dowlingdegos disease clinical signs reticular hyperpigmentation of flexural areas cubital and popliteal fossae, axillae, lateral aspects of the neck, inguinae etc. 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. Dowlingdegos disease ddd is a rare genetic disease of the skin reticulate. 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. 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 reticulate pigmented anomaly of the flexures. Galligalli disease is a subtype of dowlingdegos disease and is distinguished by the additional finding of nondyskeratotic acantholysis figure 3, arrow. Few patients with reticulate pigmented anomaly, also known as dowling degos disease ddd, have been reported. Ddd symptoms, causes, diagnosis, and treatment information for ddd dowlingdegos disease with alternative diagnoses, fulltext book chapters, misdiagnosis, research treatments, prevention, and. In 8 out of a series of 21 cases dowling degos disease was associated with verneuils disease chronic hidradenitis suppurativa. It is characterized by a reticulate pigmentation of the flexures with prominent. Dowlingdegos disease dyschromatosis symmetrica hereditaria dyschromatosis universalis hereditaria. 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. 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 ddd is a rare autosomal dominant disorder, classically. The diagnosis is made on the clinical features and confirmed on skin biopsy there are two histological pathological variants see dowlingdegos. This chapter discusses the clinical features, histopathology, differential diagnosis of freckles and lentigines.
Over time comedolike lesions also appear on the back and neck, and perioral cribriform scars and follicular cysts. 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. 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 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. 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. Dowling degos disease ddd is an autosomal dominant genodermatosis and this disease is a genetically determined disturbance of epidermal proliferation. In one patient with dowling degos disease, a biopsy from the axilla showed features of galligalli disease with suprabasal lacunae. Dowlingdegos disease ddd is a rare genetic condition of the skin that affects pigmentation. Degos disease american journal of clinical pathology. Dowlingdegos disease is a rare genetic disease of the skin that presents in adult life with pigmentation, particularly in the folds of the skin.
The clinical presentation is very helpful in differentiating these conditions. Treatment for dowlingdegos disease in chandigarh, find doctors near you. Pdf dowlingdegos disease ddd is a rare autosomal dominant trait characterized by. 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. 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. 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.
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. In 1954, degos and ossipowski described a patient with a similar case. There was also a mild, superficial, dermal perivascular lymphocytic infiltrate with occasional pigment laden macrophages figures 3, 4. Malignant atrophic papulosis kohlmeierdegos disease malignant. We also have a goal to create an international patient registry to better track and study all patients diagnosed with degos disease.
Covering all aspects of skin disease from basic science through pathology and epidemiology to. 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. 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 nord national organization for rare disorders. Intimal proliferation of deepseated arterioles which causes infarcts degos disease. A 44yearold woman in good general health presented due to the recent. Dowlingdegos disease ddd is a rare genetic disease of the skin reticulate pigmented anomaly, clinically characterized by flexural brown pigmented reticulate macules, comedolike. A rare acantholytic variant of dowlingdegos disease. Mitchell, in surgical pathology of the gi tract, liver, biliary tract, and pancreas second edition, 2009.
Epidermal changes in dowlingdegos disease include hyperkeratosis, often with small horn cysts and thinning of the suprapapillary epidermis. 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. Degos disease dd is a rare, thromboocclusive vasculopathy that primarily affect the skin, gastrointestinal tract, and central nervous system1. Specifically, the chapter discusses the following diseases. In the skin, degos disease initially manifests with erythematous, pink or red papules. Freckles and lentigines the melanocytic proliferations.
It results in increased pigmentation in the armpits and groin, blackhead spots on the. 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 ddd is a rare genetic disease of the skin reticulate pigmented anomaly, clinically characterized by flexural brown pigmented reticulate macules, comedolike papules on the. Degos disease occurs both in a limited benign, cutaneous form and in a potentially lethal multiorgan, systemic variant. Degos disease, also known as kohlmeierdegos disease or malignant atrophic papulosis, is an extremely rare condition caused by blockage of arteries and veins. 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 ddd was first described by dowling and freudenthal in 1938, then by degos and ossipowski in 1954.
American society of dermatopathology annual meeting, chicago, illinois, october 2016. 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. In 8 out of a series of 21 cases dowlingdegos disease was associated with verneuils disease chronic hidradenitis suppurativa. Jan 17, 2014 specifically, the chapter discusses the following diseases. Degos disease usually causes characteristic skin lesions that may last for a period of time ranging from weeks to years. This book is distributed under the terms of the creative commons. 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. Aug 01, 2011 intimal proliferation of deepseated arterioles which causes infarcts degos disease. This blockage results in cuttingoff of the blood supply to various tissues and organs in the body, leading to significant damage of the tissuesorgans. Those diagnosed with this disease may also develop complications due to impairment of internal organs. Dowlingdegos disease is a rare genetic disease of the skin that presents in adult.
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. Dowlingdegos disease genetic and rare diseases information. Dowling degos disease ddd is a rare autosomaldominant genodermatosis characterized by reticulate pigmentation of flexures. Malignant atrophic papulosis an overview sciencedirect topics. Other clinical and histological features are identical to dowlingdegos disease. Dowlingdegos disease a novel presentation of an uncommon. This association might be more common, since both diseases are. May 23, 2019 dowling first delineated this genodermatosis as a distinct entity in 1938. 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. Rooks textbook of dermatology is the most comprehensive work of reference available to the dermatologist. Feb 04, 20 there is no cure for dowling degos disease. Feb 23, 2018 dowling degos disease ddd is a rare genetic condition of the skin that affects pigmentation. Dowlingdegos disease, pigmented skin lesion, vulva. Since that time, approximately onehundred and thirty people have been diagnosed and documented through scientific literature.
Reticular pigmented anomaly of the flexures wikipedia. 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. 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. Tammie ferringer, md, dermatopathologist, geisinger. Dowlingdegos disease ddd was first described by dowling and freudenthal in 1938, then by degos and ossipowski in 1954. 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. Degos disease falls under the alternative appellation of malignant atrophic papulosis based on the fatal outcome that frequently characterizes its clinical course. Dowlingdegos disease rooks textbook of dermatology. A clinical image atlas for entities throughout the text can be found in the online content for this book. Dowlingdegos disease is an autosomal dominant skin disorder characterised by progressive pigmentation of the skin within body folds.
The purpose of this case report is to describe a case with only comedolike lesions without the typical flexural. The disease has been associated with hidradenitis suppurativa hs, also known as acne inversa,and. Dec 10, 2019 degos disease occurs both in a limited benign, cutaneous form and in a potentially lethal multiorgan, systemic variant. 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. Dowling first delineated this genodermatosis as a distinct entity in 1938. Dowlingdegos diseasereticulated pigmented anomaly of. 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. Dowlingdegos disease presenting primarily with comedones and. 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 neck, and pitted acneliked scars on the chin. Dowling degos disease is a rare condition inherited as autosomal dominant trait characterized by numerous, asymptomatic, symmetrical, progressive, small, roundpigmented macules over axillae and. Ddd2 to ensure longterm funding for the omim project, we have diversified our revenue stream.
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