The patients, aged between 5 and 12 years, exhibited the phenotypic variability associated with TMEM173-activating mutations,2-4 with lung disease and systemic inflammation being the major features ...in patient 1 (P1) and patient 3 (P3), while in patient 2 (P2) skin involvement was most prominent (Fig 1; see Supplemental Text and Table E1 in this article's Online Repository at www.jacionline.org). Modest and incomplete downregulation of ISG was recently described in splenic B cells of mice treated with tofacitinib, a JAK1/3 inhibitor, with differential signaling effects suggesting currently poorly understood facets of IFN regulation.9 In this regard, our kinetic ex vivo experiments provide insights into the rapid dynamic changes in IFN signaling secondary to JAK1 blockade.
Background Data on long-term topical sirolimus treatment of the cutaneous manifestations of tuberous sclerosis complex are rare. Objective To evaluate the long-term benefit and tolerance of topical ...1% sirolimus in tuberous sclerosis complex. Methods In this 18-month prospective single-center study, 1% sirolimus cream was applied daily to facial angiofibromas (FAs), fibrous cephalic plaques (FCPs), shagreen patches, hypomelanotic macules, and ungual fibromas. After complete clearance (CC) of FAs, we evaluated a maintenance protocol of 3 applications weekly. Results Twenty-five patients were enrolled. Fifty percent obtained CC of FAs within 9 months. Of 7 patients with CC (58%) who were following the maintenance protocol, 6 relapsed within 7 months and 1 was still responding at 1 year. Of 16 patients with FCPs, 7 (44%) remained stable at 12 months and 9 (56%) improved after 3 to 9 months of treatment. Only 1 of 5 patients treated for shagreen patches showed improvement at 12 months. Treatment was well tolerated with no serious adverse events. Limitations The small number of patients was a limitation. Conclusions Topical 1% sirolimus applied daily produced positive responses in treatment of FAs, FCPs, and facial hypomelanotic macules and was well tolerated. A 3-times-weekly maintenance protocol did not prevent FA relapses.
Background Up to 30% of patients with cutaneous lupus erythematosus (CLE) fail to respond to hydroxychloroquine (HCQ). Objectives We sought to evaluate the efficacy of increased daily doses of HCQ on ...cutaneous response in refractory CLE. Methods We conducted an open-label prospective study between 2010 and 2014. Patients with CLE and HCQ blood level less than or equal to 750 ng/mL were included. The daily dose of HCQ was increased to reach blood concentrations greater than 750 ng/mL. The primary end point was the number of responders defined by an improvement of CLE Disease Area and Severity Index score (4 points or 20% decrease) in patients with HCQ blood concentration greater than 750 ng/mL. Results We included 34 patients (26 women; median age 45 range 28-72 years). Two nonadherent patients were excluded. The median CLE Disease Area and Severity Index score before treatment was significantly improved after treatment (8 range 2-30 vs 1.5 range 0-30), P < .001). The primary response criterion was reached in 26 (81%) of the 32 patients analyzed. A decrease in HCQ doses without further CLE flare (median follow-up 15.8 range 3.06-77.4 months) was achieved in 15 of the 26 responders. Limitations The main limitations of the study are its open-label design and the limited number of patients included. Conclusions Increasing HCQ doses to reach blood concentrations greater than 750 ng/mL should be considered before addition of other treatments in refractory CLE.
Background Children with multiple café-au-lait macules (CALMs) may be followed for years before a second National Institutes of Health clinical criterion of neurofibromatosis type 1 (NF1) develops to ...confirm the diagnosis. Objective We sought to assess the prevalence of nevus anemicus (NA) in NF1 and its association with neuro-ophthalmologic complications. Methods This was a prospective multicenter case-control study of 210 consecutive patients with multiple CALMs. Patients with NF1 were matched for age, sex, and center with control subjects. We documented the number, location, and morphologic appearance of NA; dermatologic features of NF1; magnetic resonance imaging results; and family history. Results In all, 77 (51%) patients with NF1 had NA compared with 6 (2%) control subjects. NA was not detected in 26 patients with other genodermatoses associated with CALMs. Patients with NF1 and NA were younger than those without NA (median age: 17 years) ( P = .002). NA was mostly localized to the upper anterior aspect of the chest. NA was not significantly linked with other clinical manifestations of NF1, including optic glioma and unidentified bright objects. Limitations A potential referral bias associated with tertiary care centers is a limitation. Conclusions NA appears to have a high prevalence and specificity in NF1 and might serve as a marker for NF1 in children with multiple CALMs.
Background Skin involvement is reported during primary parvovirus B19 infection in adults. Objectives We sought to describe the cutaneous presentations associated with parvovirus B19 primary ...infection in adults. Methods We conducted a descriptive, retrospective, multicenter study. The patients included (>18 years old) had well-established primary infections with parvovirus B19. Results Twenty-nine patients were identified between 1992 and 2013 (17 women, 12 men). The elementary dermatologic lesions were mostly erythematous (86%) and often purpuric (69%). Pruritus was reported in 48% of cases. The rash predominated on the legs (93%), trunk (55%), and arms (45%), with a lower frequency of facial involvement (20%). Four different but sometimes overlapping patterns were identified (45%): exanthema, which was reticulated and annular in some cases (80%); the gloves-and-socks pattern (24%); the periflexural pattern (28%); and palpable purpura (24%). Limitations The limitations of this study were its retrospective design and possible recruitment bias in tertiary care centers. Conclusion Our findings suggest that primary parvovirus B19 infection is associated with polymorphous skin manifestations with 4 predominant, sometimes overlapping, patterns. The acral or periflexural distribution of the rash and the presence of purpuric or annular/reticulate lesions are highly suggestive of parvovirus B19 infection.
Background Hair collar sign (HCS) and hair tuft of the scalp (HTS) are cutaneous signs of an underlying neuroectodermal defect, but most available data are based on case reports. Objective We sought ...to define the clinical spectrum of HCS and HTS, clarify the risk for underlying neurovascular anomalies, and provide imaging recommendations. Methods A 10-year multicenter retrospective and prospective analysis of clinical, radiologic, and histopathologic features of HCS and HTS in pediatric patients was performed. Results Of the 78 patients included in the study, 56 underwent cranial and brain imaging. Twenty-three of the 56 patients (41%) had abnormal findings, including the following: (1) cranial/bone defect (30.4%), with direct communication with the central nervous system in 28.6%; (2) venous malformations (25%); or (3) central nervous system abnormalities (12.5%). Meningeal heterotopia in 34.6% (9/26) was the most common neuroectodermal association. Sinus pericranii, paraganglioma, and combined nevus were also identified. Limitations The partial retrospective design and predominant recruitment from the dermatology department are limitations of this study. Conclusions Infants with HCS or HTS are at high risk for underlying neurovascular anomalies. Magnetic resonance imaging scans should be performed in order to refer the infant to the appropriate specialist for management.
Background Reticular infantile hemangioma (RIH) with minimal or arrested growth (MAG) is an underrecognized variant of infantile hemangioma (IH). Objective We describe a new clinical subtype of ...RIH-MAG associated with lipoatrophy. Methods The medical charts and serial clinical photographs and imaging studies of 53 children given a diagnosis between 2004 and 2013 labeled as “abortive,” “minimal or arrested growth,” “reticular,” or “congenital” hemangiomas were reviewed in the departments of dermatology and infantile plastic surgery of 2 French university hospital centers. Results Seven children were identified with RIH-MAG associated with lipoatrophy. There were 3 main patterns: (1) a focal cutaneous depression; (2) semicircular lipoatrophy with a horizontal bandlike depression; and (3) segmental soft-tissue atrophy. One case of segmental RIH-MAG of the back of the foot was associated with genital abnormalities reminiscent of perineal hemangioma, external genitalia malformations, lipomyelomeningocele, vesicorenal abnormalities, imperforate anus, and skin tags (PELVIS) syndrome. Limitations The limitations were the retrospective study design, the small number of cases, and selection bias based on recall and photography. Conclusion RIH-MAG with lipoatrophy is an uncommon variant of IH that may be confused with other vascular anomalies, particularly capillary malformation, focal and atrophic cutis marmorata congenita telangiectatica, and rapidly involuting congenital hemangioma with lipoatrophy as a sequela.
Generalized pustular and/or erythrodermic psoriasis may have severe or even lethal complications. A peculiar noninfectious acute respiratory distress syndrome (so-called “sterile pneumonitis”) has ...been described in generalized pustular psoriasis and/or erythrodermic psoriasis. We report a new case in a 14-year-old girl with a long history of pustular psoriasis and review the published work on this complication. The girl developed sterile pneumonitis during a disease flare-up, and high-dose corticosteroid therapy was quickly initiated. Within a few days, her clinical and radiological status was dramatically improved. The pathogenesis of aseptic pneumonitis is unknown, but various proinflammatory cytokines have been implicated, especially tumor necrosis factor-alpha, which could play a role in the recruitment of leukocytes to the lung. This complication has rarely been reported but should be more widely known as the differential diagnoses include congestive heart failure, acute lung infection related or unrelated to immunosuppressive therapy, and drug hypersensitivity reaction. Early recognition would avoid delays in the correct management of this potentially lethal complication, which requires high-dose systemic corticosteroid therapy.
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