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Gardner-Diamond Syndrome

Autoerythrocyte Sensitization Syndrome

Gardner-Diamond syndrome is a rare clinical entity characterized by the spontaneous development of bruising and subsequent skin symptoms. An autoimmune reaction to phosphatidylserine in erythrocytes triggered by significant emotional stress or physical trauma seems to be the mechanism of disease. The diagnosis is made by injection of the patient's own red blood cells into the dermis and observation of an autoimmune reaction.


Presentation

The clinical presentation of patients suffering from Gardner-Diamond syndrome (also known as autoerythrocyte sensitization syndrome) seems to start with physical trauma of the skin, seen in surgery, blunt force or accidental injuries, while emotional trauma - abortion, divorce, anxiety, etc. are also presumable triggers [1] [2]. In fact, the term psychogenic purpura is used to describe typical changes seen in this condition [1] [3]. The cause still remains undisclosed, but patients initially develop constitutional symptoms such as malaise and fatigue, followed by a burning, itching or stinging sensation, pain and induration of the skin with bruising [1] [3] [4]. As the lesions grow into pink or red plaques of various sizes and progress to bluish ecchymoses, a misdiagnosis for cellulitis or compartment syndrome is not uncommon, but spontaneous regression and complete resolution within one week and subsequent recurrence is the typical clinical course of lesions encountered in this condition [1]. Skin lesions may be encountered at any site in the body, but the most common localization are the extremities [3]. They are described in individuals of all ages, including children, and about 200 cases are documented in the literature, suggesting its very rare occurrence in medical practice [1] [3]. In addition, numerous systems may be affected, including gastrointestinal (epigastric pain, nausea, vomiting, diarrhea) and vascular (subconjunctival hemorrhage, epistaxis, hematuria, menorrhagia, bleeding from the ear canal), while glomerulonephritis, stroke, and lymphoid abnormalities are extremely rare but observed findings [1] [5]. Most common psychiatric disorders encountered in these patients include conversion symptoms, hysteria, depression, anxiety, and dissociative reactions [1] [5].

Malingering
  • Child abuse or malingering was also ruled out. Initially the child was managed with platelet transfusion and fresh frozen plasma and then put on follow-up treatment with antifibrinolytics, Vitamin C but the episodes became recurrent.[ncbi.nlm.nih.gov]
  • Malingering, factitious disorders are possible; but one must must first rule out organic etiologies. Rule out relationship abuse.[dermatologyadvisor.com]
  • Domenico Bonamonte, Michelangelo Vestita, Angela Filoni, Giuseppe Giudice and Gianni Angelini, Religious stigmata as malingering artifact, Medicine, 95, 49, (e5354), (2016).[doi.org]
Constitutional Symptom
  • The cause still remains undisclosed, but patients initially develop constitutional symptoms such as malaise and fatigue, followed by a burning, itching or stinging sensation, pain and induration of the skin with bruising.[symptoma.com]
Soft Tissue Swelling
Falling
  • On enquiry, these episodes were precipitated by emotional stress and were preceded with a history of fall from the stairs. The patient also had multiple stressors in her day-to-day life and symptoms of depression.[ijpm.info]
Easy Bruising
  • A 34-year-old woman with a 3-year history of easy bruising of unexplained aetiology in anatomical sites consistent with self-infliction is described. Despite major surgery, the patient had never experienced inappropriate bleeding.[ncbi.nlm.nih.gov]
Epigastric Pain
  • In addition, numerous systems may be affected, including gastrointestinal (epigastric pain, nausea, vomiting, diarrhea) and vascular (subconjunctival hemorrhage, epistaxis, hematuria, menorrhagia, bleeding from the ear canal), while glomerulonephritis[symptoma.com]
Myalgia
  • Maximum size of ecch ranged from 0 and 5 cm (n 26), 6 and 10 cm (n 14), and 10 cm (n 13) and not described in 24 pts Systemic sym at time of ecch, reported in 49 pts, included malaise (n 26), myalgia (n 21), headaches (n 19), fevers (n 15), and abdominal[bloodjournal.org]
Purpura
  • A review of the literature concerning psychogenic purpura is presented.[ncbi.nlm.nih.gov]
  • Abstract The case of a patient with two unusual dermatologic entities, multiple glomus tumors and the painful purpura of Gardner-Diamond syndrome, is reported.[ncbi.nlm.nih.gov]
  • Psychogenic purpura (autoerythrocyte sensitization): an unsolved dilemma. Am J Med 1989;87:16N–21N. 4. Fey MF, Beck EA. Psychogenic purpura, idiopathic thrombocytopenic purpura, and platelet dysfunction in the same patient.[synapse.koreamed.org]
  • Pruthi, The Mayo Clinic Experience with Psychogenic Purpura (Gardner-Diamond Syndrome), The American Journal of the Medical Sciences, 10.1016/j.amjms.2019.02.002, (2019).[doi.org]
Skin Discoloration
  • Diamond, American physician, b. 1902 a condition resulting from autoerythrocyte sensitization, marked by large, painful transient skin discolorations that appear without apparent cause but often accompany emotional upsets, various collagen disorders,[medical-dictionary.thefreedictionary.com]
Papule
  • @article{2b3d666d5e4f4095a91300f03ec82afb, title "Gardner-diamond syndrome", abstract "Gardner-Diamond syndrome, which also is known as autoerythrocyte sensitization disorder, is a rare syndrome of inflammatory, edematous papules that evolve into painful[ucdavis.pure.elsevier.com]
  • Gottron papules Gottron type acrogeria Gougerot-Blum capillaritis see Schamberg disease Gougerot-Carteaud syndrome see Confluent and reticulate papillomatosis Gout see Urate crystal arthropathy Gouty arthritis see Urate crystal arthropathy Gower distal[diseasesdatabase.com]
Histrionic Personality Disorder
  • personality disorder, as well as sadomasochistic relationships, with frank abuse by significant others.[ijpm.info]
Irritability
  • The ongoing continuous interpersonal stressors had now affected her sleep and appetite, and since a year, she had also become very irritable. She was extremely worried about her future and felt that her situation was hopeless.[ijpm.info]
  • […] affected. 58,99 Gastrointestinal System In a prospective study of 270 CRPS patients, the most common gastrointestinal (GI) symptoms were constipation (41%), nausea (23.3%), vomiting (11.5%), intermittent diarrhea (18.5%), and indigestion (18.5%). 2 Irritable[practicalpainmanagement.com]
Dysesthesia
  • […] cutaneous diseases Arne Kanig and Rudolf Happle Ichthyoses erythrokeratodermas and related disorders Keratodermas Kro Dariers disease and HaileyHailey disease Daniel Hohl Theodora Mauro and leanPhilippe Gorog Mosaicism and linear lesions Pruritus and dysesthesia[books.google.com]
Lethargy
  • Her predominant symptoms included sadness of mood, helplessness, hopelessness, feeling of lethargy, and inability to do her routine household work.[ijpm.info]

Workup

To make the diagnosis, it is necessary to conduct a thorough clinical and laboratory workup that will exclude other more common conditions presenting with similar symptoms. Firstly, a detailed patient history is necessary, which will identify information regarding the onset and duration of symptoms, family history of bleeding disorders and detection of possible events that induce a significant amount of stress [1]. A meticulous physical examination should follow, and complete inspection of the skin can reveal numerous ecchymoses (either resolving or evolving) on different parts of the body [1]. Additionally, exclusion of puncture wounds (seen in IV drug users) as the cause of skin lesions must be made [1] [3] [4]. Laboratory workup with levels of hemoglobin, hematocrit, platelet count and erythrocyte sedimentation rate within physiological levels, while prothrombin time, activated partial thromboplastin time, as well as inflammatory markers, serum electrolytes, and specific coagulation factors will also be normal [2]. These findings will exclude many important disorders (disseminated intravascular coagulation, Henoch-Schonlein purpura, von Willebrand disease, systemic lupus erythematosus, infection, etc.) but a definite diagnosis can be obtained by injecting patient's own washed erythrocytes into the dermis, and a subsequent autoimmune reaction (to phosphatidylserine in their stroma) will cause bruising [1] [2]. In addition, histopathological analysis can be performed by obtaining a sample of tissue. Extravasation of blood cells, as well as the absence of inflammatory or infectious components, is always encountered [1] [3].

Normocytic Normochromic Anemia
  • Diamond, Louis Klein, U.S. physician, 1902-1999 Diamond-Blackfan anemia - autosomal recessive normocytic normochromic anemia. Synonym(s): congenital hypoplastic anemia ; Diamond-Blackfan syndrome Gardner, Frank H., U.S. hematologist, 1919–.[medical-dictionary.thefreedictionary.com]

Treatment

  • Taking into account the high frequency of psychic disorders and stress dependence of skin symptoms, therapy with psychotropic drugs (according to indications) and psychotherapy are pathogenetically grounded methods of treatment in psychogenic purpura,[ncbi.nlm.nih.gov]
  • Initially the child was managed with platelet transfusion and fresh frozen plasma and then put on follow-up treatment with antifibrinolytics, Vitamin C but the episodes became recurrent.[ncbi.nlm.nih.gov]
  • Dermatological signs identical to Gardner-Diamond syndrome should alert the physician to avoid unnecessary fasciotomy, as these patients respond well to psychiatric treatment as in the present case.[ncbi.nlm.nih.gov]
  • Treatment Options No controlled studies exist. Treatment should be directed toward lesion control, pain control, and intervention for an underlying or associated psychiatric disorder.[dermatologyadvisor.com]
  • The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.[orpha.net]

Prognosis

  • Prognosis - Gardner-Diamond Syndrome Not supplied.[checkorphan.org]
  • Optimal Therapeutic Approach for this Disease Once confident in the diagnosis, reassure the patient that the prognosis is good. Explain that most will have remission of symptoms (except possible recurrences during stressful periods).[dermatologyadvisor.com]
  • 16 Unfortunately, in the majority of patients reported with Gardner-Diamond syndrome, the results of the tests for a primary hemostatic disorder are not available; therefore, its prevalence in this population of patients is completely unknown. 17 The prognosis[elsevier.es]
  • The prognosis of AES is favourable with relatively low rate of mortality. 8,10 In some cases, the entity remits within months or years.[jrpbs.com]

Etiology

  • Owing to the uncertain etiology, we suggest that the functional platelet defect found may intervene, maintaining and making the ecchymotic lesions worse.[ncbi.nlm.nih.gov]
  • Etiology The etiology is unclear. Stress and psychiatric disorders frequently are present; possibly etiologic.[dermatologyadvisor.com]
  • Skin tests suggested that an etiopathogenic factor was present in the red-cell stroma. 1 This paper reports etiologic and immunopathogenic studies of the renal lesion in a patient with glomerulonephritis associated with the Gardner-Diamond or autoerythrocyte-sensitization[nejm.org]
  • The exact etiology of the syndrome is an enigma even today, since its first description in 1955 when Frank Gardner and Louis Diamond described four adult women with painful ecchymosed lesions, reproducible after an intradermal injection of the patient's[ijpm.info]
  • We explained the etiology of the disease and recommended referral to the psychiatric department, but she refused. However, since knowing the diagnosis of her disease, no recurrent painful purpuric patch has been observed over 8 months.[e-ijd.org]

Pathophysiology

  • Brenner/Rector remains the go-to resource for practicing and training nephrologists and internists who wish to master basic science, pathophysiology, and clinical best practices.[books.google.com]
  • Though our study provides new insights regarding dx, therapy and LTO, future work investigating the pathophysiology leading to the hemostatic abnormalities in GDS would be valuable.[bloodjournal.org]
  • Pathophysiology Postulated mechanisms include a stress-induced increase in endogenous glucocorticoids, causing altered hemostasis, increased fibrinolysis secondary to increased activity of tissue plasminogen activator, and autoerythrocyte sensitization[dermatologyadvisor.com]
  • The etiology and pathophysiology of this syndrome are poorly understood, but the lesions are likely self-induced. The syndrome typically occurs in white women who are experiencing emotional stress or who have concomitant psychiatric illness.[merckmanuals.com]
  • […] been raised the possibility of an autoimmune vasculopathy due to autosensitization to phosphatidylserine, a phosphoglyceride of the cell membrane, a component of the stroma of the erythrocytes 2–4 ; however, this theory has not been proven. 5,9 Other pathophysiological[elsevier.es]

Prevention

  • Prevention - Gardner-Diamond Syndrome Not supplied. Diagnosis - Gardner-Diamond Syndrome Not supplied. Prognosis - Gardner-Diamond Syndrome Not supplied.[checkorphan.org]
  • We postulate that, without any specific therapy, just knowing the diagnosis and explaining about the nature of the disease could be helpful to the patient to prevent recurrent episodes.[e-ijd.org]
  • Author Robert A Schwartz, MD, MPH Professor and Head of Dermatology, Professor of Pathology, Pediatrics, Medicine, and Preventive Medicine and Community Health, Rutgers New Jersey Medical School; Visiting Professor, Rutgers University School of Public[emedicine.medscape.com]
  • "Force majeure" term will be regarded as outside of the concerned party's reasonable control and any situation that "Turkiye Klinikleri" cannot prevent even though it shows due diligence.[turkiyeklinikleri.com]

References

Article

  1. Jafferany M, Bhattacharya G. Psychogenic Purpura (Gardner-Diamond Syndrome). Prim Care Companion CNS Disord. 2015;17(1):10.4088/PCC.14br01697.
  2. Zhao H, Luo F, Li H. Autoerythrocyte Sensitization Syndrome Presenting with General Neurodermatitis: Factitious Purpura or Psychophysiological Entity? Dermatol Ther (Heidelb). 2012;2(1):5
  3. Meeder R, Bannister S. Gardner-Diamond syndrome: Difficulties in the management of patients with unexplained medical symptoms. Paediatr Child Health. 2006;11(7):416-419.
  4. Okur M, Turan H, Özkan A, Güneş C, Kocabay K. An Extremely Rare Cause of Bruising in Children: Autoerythrocyte Sensitization Syndrome. Turk J Haematol. 2012;29(2):201-203.
  5. Sarkar S, Ghosh SK, Bandyopadhyay D, Nath S. Psychogenic purpura. Indian J Psychiatry. 2013;55(2):192-194.

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Last updated: 2019-07-11 20:35