Pernio in pediatrics. (1/8)
Pernio, or chilblains, is a localized inflammatory lesion of the skin resulting from an abnormal response to cold. Five cases were seen among adolescent female patients who presented to our rheumatology service in a pediatric tertiary care center in the winter of 2003 to 2004. All 5 patients were thin (BMI of <25th percentile) and had either toes or fingers that were affected. For each, laboratory evaluation results were unremarkable, including negative antinuclear antibody profile results. Symptomatic treatment, with or without medication, was recommended. Pernio most commonly occurs among young women but may occur among older individuals or among children. Because pernio develops among susceptible individuals who are exposed to nonfreezing cold, the lesions usually begin in the fall or winter and disappear in the spring or early summer. Acute pernio may develop 12 to 24 hours after exposure to the cold. Single or multiple erythematous, purplish, edematous lesions appear, accompanied by intense pain, itching, or burning. Chronic pernio occurs with repeated exposure to the cold and the persistence of lesions. In an acute exacerbation, the major differential diagnosis alternative would be Raynaud's phenomenon, which consists of sharply demarcated cutaneous pallor and cyanosis, followed by erythema, of far shorter duration (hours rather than days). Frostbite is freezing of tissue, with resultant tissue necrosis. Several conditions have been described as predisposing subjects to pernio, including the presence of cryoproteins, excessive cold exposure, and anorexia nervosa among children and systemic lupus erythematosus and antiphospholipid antibodies among adults. It is important, therefore, when evaluating a patient with pernio, both to exclude an underlying diagnosis and to determine whether additional testing is necessary. The lesions of acute pernio are usually self-limited but may lead to recurrent disease. The involved limb should be cleaned and dried, and rewarming should occur. Prevention is the best form of therapy, and cold exposure should be minimized after an initial insult. The prognosis for properly treated pernio is excellent. Nifedipine, which produces vasodilation, has been demonstrated to be effective in reducing pain, facilitating healing, and preventing new lesions of pernio. We think that the 5 cases seen in our rheumatology clinic represent an increase, compared with prior years; the dermatology clinic at the University of Colorado reported a series of 8 children treated during a 10-year period. The reasons for the possible increase are likely multifactorial, with cold climate, a vulnerable population with thin body habitus, and cold exposure all being contributing causes. Of note, the quality of cold in Colorado is quite dry; however, the winter of 2003 to 2004 was not particularly colder or drier than prior years. All patients were very thin, and thin body habitus may be associated with increased cutaneous vasoreactivity. It is also unclear how these cases of pernio may reflect that winter's fashion trends (2 patients reported wearing sandals in winter). General pediatricians, particularly those who practice in colder climates, should be aware of the presentation and treatment of pernio in childhood. (+info)Clinical and molecular phenotype of Aicardi-Goutieres syndrome. (2/8)
Aicardi-Goutieres syndrome (AGS) is a genetic encephalopathy whose clinical features mimic those of acquired in utero viral infection. AGS exhibits locus heterogeneity, with mutations identified in genes encoding the 3'-->5' exonuclease TREX1 and the three subunits of the RNASEH2 endonuclease complex. To define the molecular spectrum of AGS, we performed mutation screening in patients, from 127 pedigrees, with a clinical diagnosis of the disease. Biallelic mutations in TREX1, RNASEH2A, RNASEH2B, and RNASEH2C were observed in 31, 3, 47, and 18 families, respectively. In five families, we identified an RNASEH2A or RNASEH2B mutation on one allele only. In one child, the disease occurred because of a de novo heterozygous TREX1 mutation. In 22 families, no mutations were found. Null mutations were common in TREX1, although a specific missense mutation was observed frequently in patients from northern Europe. Almost all mutations in RNASEH2A, RNASEH2B, and RNASEH2C were missense. We identified an RNASEH2C founder mutation in 13 Pakistani families. We also collected clinical data from 123 mutation-positive patients. Two clinical presentations could be delineated: an early-onset neonatal form, highly reminiscent of congenital infection seen particularly with TREX1 mutations, and a later-onset presentation, sometimes occurring after several months of normal development and occasionally associated with remarkably preserved neurological function, most frequently due to RNASEH2B mutations. Mortality was correlated with genotype; 34.3% of patients with TREX1, RNASEH2A, and RNASEH2C mutations versus 8.0% RNASEH2B mutation-positive patients were known to have died (P=.001). Our analysis defines the phenotypic spectrum of AGS and suggests a coherent mutation-screening strategy in this heterogeneous disorder. Additionally, our data indicate that at least one further AGS-causing gene remains to be identified. (+info)A cluster of chilblains in Hong Kong. (3/8)
OBJECTIVE: To report a recent clustering of chilblain cases in Hong Kong. DESIGN: Case series. SETTING: A regional hospital and a social hygiene clinic in the New Territories West, Hong Kong. PATIENTS: Patients with a clinical diagnosis of chilblains in February 2008. RESULTS: Eleven patients with chilblains were identified; seven (64%) gave an antecedent history of prolonged exposure to cold. They all presented with erythematous or dusky erythematous skin lesions affecting the distal extremities, especially fingers and toes. Laboratory tests revealed elevated antinuclear antibodies titres in two, positive rheumatoid factor in two, presence of cold agglutinins in one, and a raised anti-DNA titre (>300 IU/mL) in one. Skin biopsies were performed in six patients, four of them showed typical histopathological features of chilblains. In the patient with systemic lupus erythematosus, features of vasculitis were suspected, and in the one with pre-existing juvenile rheumatoid arthritis, there were features of livedo vasculitis. In 10 (91%) of the patients, the skin lesions had resolved when they were last assessed (at the end of March 2008), but had persisted in the patient who had pre-existing systemic lupus erythematosus. CONCLUSION: The recent clustering of chilblains was possibly related temporally to the prolonged cold weather at the end of January to mid-February. In our series, most of the patients developed chilblains as an isolated condition and resolved spontaneously within a few weeks. Laboratory tests and skin biopsies for chilblains are not necessary, unless the condition persists, the diagnosis in doubt or an underlying systemic disease is suspected. (+info)Classic Kaposi sarcoma mimicking chilblains. (4/8)
Kaposi Sarcoma (KS) is a low-grade vascular tumor associated with human herpes virus-8 infection. It usually presents in elderly patients as violaceous plaques of the lower limbs. However, KS may present in a wide spectrum of atypical clinical forms, leading to misdiagnoses. We report a case of classic KS mimicking chilblains. (+info)Dominant mutation of the TREX1 exonuclease gene in lupus and Aicardi-Goutieres syndrome. (5/8)
(+info)Anorexia nervosa associated with acromegaloid features, onset of acrocyanosis and Raynaud's phenomenon and worsening of chilblains. (6/8)
Patients with anorexia nervosa may develop many physical and endocrinological complications. We wish to report two patients who developed soft tissue swelling of their hands and worsening of their peripheral vascular disease, evidenced by the appearance of acrocyanosis and Raynaud's phenomenon and more severe perniosis, following the onset of their anorexia nervosa. (+info)Nakajo-Nishimura syndrome: an autoinflammatory disorder showing pernio-like rashes and progressive partial lipodystrophy. (7/8)
(+info)Case for diagnosis. Chilblains. (8/8)
(+info)Chilblains, also known as perniosis, are small, itchy, red or purple swellings on the skin that occur as a reaction to cold and damp conditions.
Chilblains are small, itchy, painful swellings on the skin that occur as a reaction to cold and damp conditions. They most often affect the extremities, such as the fingers, ears, and toes. The medical term for chilblains is "perniosis." Chilblains can cause the skin to turn red, purple, or blue, and they may also become painful, swollen, and sensitive to touch. In severe cases, chilblains can lead to blistering, open sores, and infection.
Chilblains occur when the small blood vessels in the skin constrict in response to cold temperatures, causing a lack of oxygen and nutrients to reach the skin tissue. When the skin is then exposed to warmth, the blood vessels dilate rapidly, leading to leakage of fluid into the surrounding tissues and inflammation.
Chilblains are more common in people who have poor circulation or who are sensitive to cold temperatures. They can be prevented by keeping the skin warm and dry, avoiding sudden changes in temperature, and wearing protective clothing when exposed to cold conditions. Treatment typically involves relieving symptoms with warm compresses, elevating the affected area, and avoiding further exposure to cold. In some cases, medication may be necessary to reduce inflammation and promote healing.