Alpha-1-antitrypsin deficiency panniculitis

Alpha-1-antitrypsin deficiency is a congenital error of metabolism linked to pulmonary (emphysema) and liver (cirrhosis) disease. Since 1972, panniculitis has been associated with this deficiency, initially related to Weber-Christian syndrome and finally as a differentiated entity. Clinical manifestations typically consist of wide nodular lesions on the trunk and proximal extremities that evolve to ulceration and drainage. Histopathologically it presents as a mixed septal-lobular panniculitis pattern with some typical findings referred. Differential diagnosis from other types of panniculitis and neutrophilic dermatosis must be established. Different treatments, including tetracyclines, dapsone, and alpha-1-antitrypsin repositioning, have shown variable efficacy in controlling this disease.     

Panniculitis secondary to extravasation of clarithromycin in a patient with alpha 1-antitrypsin deficiency (phenotype PiZ)

alpha 1-Antitrypsin deficiency (AATD) is known to be associated with panniculitis. Although reports of this association are rare, the true incidence may be unappreciated because of underdiagnosis of AATD. We report a case of panniculitis occurring in a 34-year-old woman with severe AATD following the extravasation of clarithromycin infused intravenously for treatment of community-acquired pneumonia. Resolution occurred with conservative management. The histopathology and management of this unusual condition are discussed, with a review of the literature.     

α1-Antitrypsin deficiency-associated panniculitis: case report and review of treatment options

Alpha(1)-antitrypsin deficiency, a relatively frequent mutation in the population, is associated with the development of panlobular emphysema and liver cirrhosis. The deficiency is in rare cases associated with the development of panniculitis, and very differentiated clinical courses have been reported in the literature. We report a case of panniculitis in a patient with alpha(1)-antitrypsin deficiency and describe briefly the pathophysiology of the disease and current treatment possibilities.     

以红斑、结节为首发表现的胰腺性脂膜炎合并胰管结石1例

 报告1例以红斑、结节为首发表现的胰腺性脂膜炎合并胰管结石。患者男,78岁。双小腿红斑、结节伴触痛4天。皮肤科查体：双小腿可见散在约蚕豆至钱币大小红斑、结节,伴触痛。皮损病理：表皮大致正常,病变主要位于皮下脂肪,脂肪小叶内可见广泛脂肪坏死,周围见嗜碱性细胞团块、混合炎细胞及鬼影细胞。上腹部增强CT：主胰管结石,伴相邻胰颈部及体尾部主胰管扩张。诊断：胰腺性脂膜炎合并胰管结石。转肝胆外科行经腹胰管结石取石术后皮损消退,随访2年未复发。     

Early pancreatic panniculitis associated with HELLP syndrome and acute fatty liver of pregnancy

Pancreatic panniculitis represents a rare cutaneous disorder most commonly associated with acute or chronic pancreatitis or pancreatic carcinoma. We describe a case of a 17-year-old woman who presented with a 2-day history of erythematous patches involving her bilateral knees and tender, scattered red-brown nodules involving her bilateral anterior shins. She was seen during a hospitalization for emergent cesarean section and her hospital course was complicated by HELLP syndrome (defined by the presence of hemolysis, elevated liver enzymes, low platelet count), acute fatty liver of pregnancy and pancreatitis. The characteristic histopathologic findings, including ghost cells, fat necrosis and granular basophilic material with dystrophic calcification, appear in later lesions. In early lesions, as was shown in this case, a neutrophilic subcutaneous infiltrate raises a differential diagnosis including infection, subcutaneous Sweet's syndrome or atypical erythema nodosum. To our knowledge, this represents the first report of pancreatic panniculitis in association with HELLP syndrome and acute fatty liver of pregnancy. Early recognition is critical, as skin lesions may precede the development of pancreatitis. Often, as in our case, the effects of pancreatitis may be life threatening.     

Severe panniculitis caused by homozygous ZZ alpha1-antitrypsin deficiency treated successfully with human purified enzyme (Prolastin)

Severe panniculitis caused by alpha1-antitrypsin deficiency is very rare even though the ZZ phenotype occurs in 1 : 3500 of the population of northern Europe. We describe a 33-year-old woman with rapidly progressing panniculitis and extensive skin necrosis with multiple life-threatening complications. Initial treatment followed by maintenance therapy with human purified enzyme (Prolastin, Bayer, Bridgend, U.K.) has been life-saving.     

A case of cutaneous pseudolymphoma with a distinctive appearance treated successfully by intralesional interferon alpha‐1b and corticosteroids

Cutaneous pseudolymphoma (CPL) encompasses various forms of benign lymphocytic proliferative dermatoses that mimic the clinical and/or pathological changes of lymphoma. The clinical manifestations of CPL vary due to differences in the pathogenesis, and accordingly, no specific treatment has been identified. Here, we report a case of CPL on the nose, which had a distinctive appearance and was treated successfully using a combination of intralesional interferon alpha‐1b and compound betamethasone (betamethasone sodium phosphate and betamethasone dipropionate). This combination may be a good option for localized CPLs at particular anatomical sites.     

Neutrophilic Panniculitis in a child with MYSM1 deficiency

Neutrophilic panniculitis (NP) with myelodysplasia has been described in adults but not in children. We report a case of NP associated with myelodysplasia in a child with MYSM1 deficiency, a newly described syndrome with primary immunodeficiency (PI), bone marrow failure, and developmental aberrations.     

Effect of insulin‐like growth factor‐1 deficiency or administration on the occurrence of acne

Background The role of growth hormone, insulin, and insulin‐like growth factor‐1 (IGF‐1) in the development of acne is incompletely understood. Objective To study the effect of the absence of IGF‐1 and its pharmacologic replacement on the occurrence of acne vulgaris. Patients and Methods Laron syndrome (LS) is characterized by congenital IGF‐1 deficiency. The study group consisted of 21 patients with classical LS, who underwent puberty: 13 (8 male, 5 female) untreated and under regular follow‐up until age 20?48 years; and 8 (2 male, 6 female) treated with IGF‐1 (70–200 μg/kg/day), including 6 adults (2 male, treated at age 14.5–29 years and 4 female, treated at age 30–37 years) and 2 adolescents (2 female, treated at age 3.5–16 years). The medical files were reviewed for occurrence of acne and the corresponding sex hormone levels, and the findings were compared between the treated and untreated patients. Results Puberty was delayed in all untreated patients. Only one patient had slight acne at age 22 years, when he reached full puberty. Among the 2 IGF‐1 treated male patients, none acquired acne. Among the 6 treated female patients, 3 had signs of hyperandrogenism (oligo‐amenorrhea) and acne during IGF‐1 over‐dosage. On reduction of the IGF‐1 dose (to 50 μg/kg/day) or cessation of treatment, the acne disappeared in all 3 patients. Conclusion This study demonstrates for the first time that serum IGF‐1 deficiency prevents the occurrence of acne. The findings suggest that an interaction between IGF‐1 and androgens is necessary for the development of acne.     

Alpha‐1‐antitrypsin deficiency‐related panniculitis: two cases with diverse clinical courses

Alpha‐1‐antitrypsin deficiency (AATD)‐related panniculitis is an extremely rare and underdiagnosed entity, and there is a paucity of data on its treatment. We report two cases of AATD‐related panniculitis. The first was a 24‐year‐old woman with known AATD who presented with painful leg ulcers refractory to treatment with corticosteroids and colchicine. She had a good response to α1‐antitrypsin infusions but required dose adjustment due to flares in disease activity. The second case was a 38‐year‐old woman who presented with painful nodules on the legs refractory to corticosteroid therapy. Laboratory investigations revealed severe AATD. She had an excellent response to colchicine therapy. In both these cases of AATD, panniculitis was the first clinical manifestation of the disease. AATD‐related panniculitis may have none of the typical clinical clues for AATD, such as a family history, cirrhosis or emphysema. Early identification may help prevent these complications from developing.     

Improved cutaneous wound healing after intraperitoneal injection of alpha‐melanocyte‐stimulating hormone

Skin wound healing is a complex process involving many types of cells and molecules and often results in scar tissue formation in adult mammals. However, scarless healing occurs in foetal skin and minimal scars may occur after cutaneous healing in the adult with reduced inflammation. Alpha‐melanocyte‐stimulating hormone (α‐MSH) is widely distributed within the central nervous system and in other body regions, such as the skin, and has strong anti‐inflammatory activity. The aim in the present experiments was to learn whether intraperitoneal (i.p) injection of α‐MSH just before skin wounds antagonize inflammation and improves skin wound healing in adult mice. C57BL/6 young adult mice received an i.p. injection of 1 mg/kg of α‐MSH and, 30 min later, two circular through‐and‐through holes (6.5 mm diameter) were made in their dorsal skin under anaesthesia. Control mice were wounded after vehicle injection. The wound healing process was analysed macroscopically and microscopically at 3, 7, 40 and 60 days. Skin samples were fixed in formalin, embedded in paraffin, sectioned at 5 μm, stained with H&E or toluidine blue for cell analysis or Gomori's trichrome for extracellular matrix (ECM) analysis. Other samples were fixed in DMSO+methanol, embedded in paraplast and incubated with anti‐CD45, antismooth muscle actin, anticollagen‐I and anticollagen‐III for immunofluorescence analysis. Alpha‐MSH significantly reduced the number of leucocytes, mast cells and fibroblasts at 3 and 7 days after injury. On days 40 and 60, α‐MSH reduced scar area and improved the organization of the collagen fibres indicating that it may direct the healing into a more‐regenerative/less‐scarring pathway.