It can also be part of a syndromes such as PAPA syndrome . [ citation needed ] One hallmark of pyoderma gangrenosum is pathergy , which is the appearance of new lesions at sites of trauma, including surgical wounds. [10] Diagnosis [ edit ] Diagnosis of PG is challenging owing to its variable presentation, clinical overlap with other conditions, association with several systemic diseases, and absence of defining histopathologic or laboratory findings. ... It has been shown that up to 39% of patients who initially received a diagnosis of PG have an alternative diagnosis. [11] In light of this, validated diagnostic criteria have recently been developed for ulcerative pyoderma gangrenosum. [12] Diagnostic criteria [ edit ] In addition to a biopsy demonstrating a neutrophilic infiltrate, patients must have at least 4 minor criteria to meet diagnostic criteria. [12] These criteria are based on histology, history, clinical examination and treatment. [ citation needed ] Histology: Exclusion of infection (including histologically indicated stains and tissue cultures) Pathergy (ulcer occurring at sites of trauma, with ulcer extending past area of trauma) Personal history of inflammatory bowel disease or inflammatory arthritis History of papule, pustule, or vesicle that rapidly ulcerated Clinical examination (or photographic evidence) of peripheral erythema, undermining border, and tenderness at site of ulceration Multiple ulcerations (at least 1 occurring on an anterior lower leg) Cribriform or “wrinkled paper” scar(s) at sites of healed ulcers Decrease in ulcer size within 1 mo of initiating immunosuppressive medication(s) Treatment [ edit ] First-line therapy for disseminated or localized instances of pyoderma gangrenosum is systemic treatment by corticosteroids and ciclosporin .

Overview Pyoderma gangrenosum (pie-o-DUR-muh gang-ruh-NO-sum) is a rare condition that causes large, painful sores (ulcers) to develop on your skin, most often on your legs. The exact causes of pyoderma gangrenosum are unknown, but it appears to be a disorder of the immune system. People who have certain underlying conditions, such as inflammatory bowel disease or arthritis, are at higher risk of pyoderma gangrenosum. Pyoderma gangrenosum ulcers can develop quickly. They usually clear up with treatment, but scarring and recurrences are common. Symptoms Pyoderma gangrenosum usually starts with a small, red bump on your skin, which may resemble a spider bite.

Pyoderma gangrenosum is a rare, destructive inflammatory skin disease of which a painful nodule or pustule breaks down to form a progressively enlarging ulcer. Lesions may occur either in the absence of any apparent underlying disorder or in association with other diseases, such as ulcerative colitis , Crohn's disease , polyarthritis (an inflammation of several joints together), gammopathy , vasculitis, leukemia, and other conditions. Each year in the United States, pyoderma gangrenosum occurs in about 1 person per 100,000 people. Pyoderma gangrenosum belongs to a group of autoinflammatory skin diseases called neutrophilic dermatoses . Neutrophils are a type of white blood cell or leukocyte which form an early line of defense against bacterial infections.

Gestational pemphigoid Other names Pemphigoid gestationis Micrograph of gestational pemphigoid showing the characteristic subepidermal blisters and abundant eosinophils . HPS stain . Specialty Obstetrics Gestational pemphigoid ( GP ) is an autoimmune blistering skin disease of pregnancy , [1] [2] [3] typically occurring in the second or third trimester. It was originally called herpes gestationis because of the blistering appearance, although it is not associated with the herpes virus . It is one of the pemphigoid ( pemphigus -like) diseases. Contents 1 Presentation 2 Causes 2.1 Risk 3 Diagnosis 3.1 Differential diagnosis 4 Treatment 5 See also 6 References 7 External links Presentation [ edit ] Diagnosis of GP becomes clear when skin lesions progress to tense blisters during the second or third trimester. The face and mucous membranes are usually spared. GP typically starts as a blistering rash in the navel area and then spreads over the entire body.

Pemphigoid gestationis (PG) is a pregnancy-associated, autoimmune skin disorder . ... Symptoms may improve at the end of pregnancy, but flares may occur during, or right after, delivery. While PG usually goes away on its own within weeks to months after delivery, it has been reported to persist for years in some cases. PG is caused by a woman's immune system producing autoantibodies and mistakenly attacking her own skin, but the trigger for autoantibody production is poorly understood.

Glucagonoma Specialty Oncology Glucagonoma is a very rare tumor of the pancreatic alpha cells that results in the overproduction of the hormone , glucagon . Typically associated with a rash called necrolytic migratory erythema , weight loss, and mild diabetes mellitus, most people with glucagonoma contract it spontaneously. [1] However, about 10% of cases are associated with multiple endocrine neoplasia type 1 (MEN-1) syndrome. [1] Contents 1 Causes 2 Mechanism 3 Diagnosis 4 Treatment 5 History 6 References 7 External links Causes [ edit ] Although the cause of glucagonoma is unknown, some genetic factors may lead to the condition. A family history of multiple endocrine neoplasia type 1 (MEN1) is a risk factor. [1] Additionally, those with Mahvash disease have an increased risk for glucagonoma, as glucagon receptor gene (GCGR) is mutated. [2] Mechanism [ edit ] Glucagonoma results from the overproduction of glucagon , a peptide hormone located in the pancreatic alpha cells . [3] Classic symptoms include, but are not limited to, necrolytic migratory erythema (NME), diabetes mellitus, and weight loss. [3] NME presents in about 70% of cases of glucagonoma, [4] and is characterized by erythematous lesions over the distal extremities and the groin area. [3] NME has occasionally been observed in people who do not have glucagonoma. [2] People who develop glucagonoma from Mahvash disease also do not develop NME, implying that working glucagon receptors are needed in order for NME to be present in a person. [3] Weight loss, the most commonly associated effect with glucagonoma, results from the glucagon hormone, which prevents the uptake of glucose by somatic cells. [3] Diabetes is not present in all cases of glucagonoma, [3] but does frequently result from the insulin and glucagon imbalance. [5] Diagnosis [ edit ] The presence of glucagonoma syndrome, the symptoms that accompany the pancreatic tumor, as well as elevated levels of glucagon in the blood, are what is used to diagnose glucagonoma. [6] When a person presents with a blood glucagon concentration greater than 500 mg/mL along with the glucagonoma syndrome, a diagnosis can be established. [3] It is important to note that not all cases of hyperglucagonemia will lead to a diagnosis of glucagonoma. [3] Elevated blood levels of glucagon are associated with other disorders like pancreatitis and kidney failure . [3] About 60% of people diagnosed with glucagonoma are women. [7] Most of those that are diagnosed are between 45–60 years of age. [7] Treatment [ edit ] People who are diagnosed with sporadic glucagonoma often have an increased mortality rate compared to those with MEN1, as the latter group will go to the doctor for periodic visits. [4] People whose tumor have metastasized cannot easily be treated as the tumor is resistant to chemotherapy. [4] The only curative therapy for glucagonoma is surgery, and even this is not always successful. [6] [4] Heightened glucagon secretion can be treated with the administration of octreotide , a somatostatin analog, which inhibits the release of glucagon. [8] Doxorubicin and streptozotocin have also been used successfully to selectively damage alpha cells of the pancreatic islets. These do not destroy the tumor, but help to minimize progression of symptoms. [ citation needed ] History [ edit ] Fewer than 251 cases of glucagonoma have been described in the literature since their first description by Becker in 1942. Because of its rarity (fewer than one in 20 million worldwide), long-term survival rates remain unknown.

Craniodiaphyseal dysplasia is a rare sclerotic bone disorder with a variable phenotypic expression with massive generalized hyperostosis and sclerosis, particularly of the skull and facial bones, that may lead to severe deformity.

Craniodiaphyseal dysplasia Other names CDD or Lionitis Craniodiaphyseal dysplasia has an autosomal recessive pattern of inheritance [1] Craniodiaphyseal dysplasia ( CDD ), also known as lionitis , is an extremely rare autosomal recessive bone disorder that causes calcium to build up in the skull , disfiguring the facial features and reducing life expectancy . These calcium deposits decrease the size of cranial foramina , and can decrease the circumference of the cervical spinal canal. In the few cases recorded, most of the sufferers died in childhood. Contents 1 Cause 2 Diagnosis 3 Society 4 See also 5 References 6 External links Cause [ edit ] The underlying genetics are uncertain. [2] Diagnosis [ edit ] Among the medical signs are dacryocystitis , seizures , intellectual disability , and paralysis , each of which is a complication resulting from the diminutive foramina. A common sign reported as a result of the disease has been widely spaced eyes. [3] Society [ edit ] Peter Bogdanovich 's 1985 drama film Mask drew public attention to the case of Roy L. "Rocky" Dennis , an American boy who died of the disorder in 1978. In the American medical drama Grey's Anatomy episode " Yesterday ", Jesse Plemons plays a teenage boy suffering from lionitis.

Clinical Features Cranial and facial hyperostosis results in a characteristic clinical and radiographic appearance. The diaphyses of the bones are generally expanded. Halliday (1949) and Stransky et al. (1962) reported isolated cases with similar findings. Facial and cranial thickening and distortion are particularly striking in this form. Most cases have been mentally retarded. Unlike the situation in the craniometaphyseal dysplasias (e.g., 218400), the long bones do not show metaphyseal flaring but show diaphyseal endostosis and are shaped like a policeman's nightstick. Joseph et al. (1958), who first suggested the designation of progressive craniodiaphyseal dysplasia, described a patient with a picture they considered identical to that described by Halliday (1949).