Discoid Lupus Erythematosus and X-linked Chronic Granulomatous Disease

X-linked chronic granulomatous disease (CGD), a defect of leukocyte bactericidal capacity, was seen in three generations of a large kindred. The association of discoid lupus erythematosus (DLE) with CGD was noted. Recurrent antigenic stimulation leading to autoantibody formation may explain the apparently increased frequency of DLE in female carriers of CGD. A screen for CGD, the nitroblue tetrazolium test, is suggested for females with DLE who have experienced suppurative infections or who have a family history of early childhood deaths or recurrent infections.     

Sweet Syndrome as the Presenting Manifestation of Chronic Granulomatous Disease in an Infant

Abstract: A 2.5-month-old infant had Sweet syndrome. Chronic granulomatous disease was subsequently diagnosed by the nitroblue tetrazolium reduction test. To date, this infant is the youngest reported with Sweet syndrome. Moreover, the association of chronic granulomatous disease with this syndrome has not been previously described. The precise relationship between the conditions remains to be determined. Granulocyte function should be evaluated in any infant with Sweet syndrome.     

慢性肉芽肿病1例

患者女,7岁。外阴浸润性斑块伴糜烂1年余,进行性加重并出现口鼻耳糜烂伴高热2月。皮肤感染症状典型、严重,组织病理及血清学检查支持慢性肉芽肿病诊断。予抗生素及激素治疗无效,死亡。     

Neonatal Lupus Erythematosus in an Infant with Turner Syndrome

Abstract: Neonatal lupus erythematosus (NLE) is characterized by transient, annular cutaneous lesions, congenital heart block, and a variety of systemic or hematologic abnormalities. We describe a white infant girt with onset of skin lesions on the face and scalp at 4 days of age. At age 4 weeks she had generalized, erythematous, scaly, annular skin lesions that underwent spontaneous regression at age 5 months. Her mother had no cutaneous or other lesions, but complement examinations revealed the presence of anti-Ro(SSA) and anti-La(SSB) antibodies, and absence of anti-Sm and anti-RNP antibodies. Karyotyping revealed Turner syndrome (TS) with 45,XO sex chromosome constitution. Ro(SSA) and La(SSB) antibodies were found, and direct immunofluorescence testing on healthy skin was positive. At age 5 months, follow-up immunologic examination of the infant had normal results but the mother still had anti-Ro(SSA) and anti-La(SSB) antibodies. We believe that this is the first reported case of NLE in association with TS.     

Isotretinoin Use in a Case of Chronic Granulomatous Disease

Abstract: Chronic granulomatous disease (CGD) is a rare, inherited disorder, in which phagocytic cells, through an enzyme defect, are unable to produce microbicidal oxidants; affected individuals are thereby unduly susceptible to certain life‐threatening bacterial and fungal infections and require lifelong antibiotic and antifungal prophylaxis. We present the case of an adolescent CGD patient whose recalcitrant acne vulgaris and subsequent recurrent facial abscesses were successfully treated with isotretinoin; swift resolution of this and similar patients’ acne lesions is paramount, as these lesions may serve as a portal of entry for systemic infections and may pose a significant risk for scarring. Isotretinoin is associated with an increased rate of cutaneous Staphylococcus aureus carriage as well as exuberant granulation responses, both of theoretical concern in CGD patients. The therapeutic outcome of isotretinoin in treatment‐resistant cases of acne in CGD patients has not been reported in the literature; we present this case to advocate an underreported use of isotretinoin in the prevention of acne, its subsequent cyst formation, and scarring patients with CGD.     

Transporter Associated with Antigen Processing Deficiency Syndrome: Case Report of an Adolescent with Chronic Perforated Granulomatous Skin Lesions Due to TAP2 Mutation

A previously unreported case of transporter associated with antigen processing (TAP) deficiency syndrome (with no parental consanguinity) due to a homozygous TAP2 mutation is presented. Characteristic nonhealing, chronic, ulcerative granulomatous leg lesions combined with recurrent otitis media and sinopulmonary infections led to this boy being diagnosed at 15 years old. The role of the dermatologist was crucial in making the correct diagnosis and thereby positively influencing the quality of life and life expectancy of this boy.     

Acute Graft-versus-Host Disease with Unusual Cutaneous Intracellular Vacuolation in an Infant with Severe Combined Immunodeficiency

Abstract: We report an infant with severe combined immunodeficiency (SCID) who had cutaneous manifestations of acute graft-versus-host disease (GVHD) due to maternofetal lymphocyte engraftment. Histologic and ultrastructural examinations of the skin revealed intracellular vacuoles resembling lipid droplets in the epidermis and dermis, which is not a recognized feature of acute GVHD or SCID.     

Paroxysmal Supraventricular Tachycardia in an Infant with Hand, Foot, and Mouth Disease

An 11-month-old male infant was admitted to our hospital with fever, fussiness, poor feeding, vomiting, and tachypnea for two days prior. Physical examination revealed sporadic papules and vesicles occurring on his hands, feet, face, and perianal mucosa. Enterovirus 71 was identified from both throat swab and vesicle fluid using virus isolation techniques. The patient''s heart rate fluctuated in a very narrow range from 180~210/beats/min regardless of his physiologic state. An electrocardiogram showed P-waves buried within or occurring just after regular, narrow, QRS complexes. The patient was diagnosed as having hand, foot, and mouth disease in combination with paroxysmal supraventricular tachycardia (PSVT). The child recovered well with symptomatic treatment, including intravenous administration of acyclovir, glucocorticoids, immunoglobulin, adenosine, and sotalol. PSVT was terminated within 36 hours of hospitalization. The skin lesions became crusted on the third day, and then proceeded to heal spontaneously. Here we report on this unusual case and review the associated literature.     

Association Between Discoid Lupus Erythematosus and Chronic Granulomatous Disease—Report of Two Cases and Review of the Literature

Discoid lupus erythematosus (DLE) is known to be associated with chronic granulomatous disease (CGD), but most DLE occurs in female carriers of X‐linked CGD, with few reports of these lesions in CGD‐affected individuals—this observation is unexplained. We describe two cases of DLE‐like lesions in boys with CGD: one boy with partial neutrophil function and another whose lesions were related to voriconazole use. Reviewing other previously reported cases, we conclude that the risk of developing DLE‐like lesions appears to be greater primarily in two subsets of the population with CGD: those with partial neutrophil function and those with near‐absent neutrophil function in whom there is a second trigger. In light of recent literature on the role of neutrophils in lupus pathogenesis, we propose that pathogenesis of DLE in CGD may be related to NETosis, neutrophil dysfunction and a deficiency of reactive oxygen species, which medications such as voriconazole also influence.     

Shock in an Infant with Bullous Mastocytosis

Abstract: A 6-month-old infant had bullous lesions on his posterior neck, upper trunk, and extremities for two months prior to admission for fever and shock. He had an elevated white blood cell count with left shift and normal platelet count, but abnormal coagulation studies. He was treated with intravenous antibiotics, crystalloids, fresh-frozen plasma, and pressor agents. A histamine H₂ receptor antagonist was started for guaiac-positive nesogastric tube drainage. The patient recovered after four days of treatment. A skin biopsy confirmed mastocytosis. A week iater the child passed grossly bloody stools with blood clots. No source of gastrointestinal bleeding was identified by extensive work-up. Blood histamine level measured one day before gastrointestinal bleeding was 16,400 pg/ml (normal 263±202 pg/ml). The bleeding resolved spontaneously. The patient was maintained on cimetidine. Results of a subsequent bone scan were normal. Shock or gastrointestinal bleeding associated with unusual skin lesions should alert the pediatrician to the possibility of mastocytosis.     

Fas抗原及Fas配体在红斑狼疮患者皮损中的表达

目的 研究Ｆａｓ抗原及Ｆａｓ配体（Ｆａｓ－Ｌ）在红斑狼疮皮损中的表达情况。方法 应用免疫组化技术检测２５例系统性红斑狼疮（ＳＬＥ）及１４例盘状红斑狼疮（ＤＬＥ）不同病程的皮损中Ｆａｓ抗原及Ｆａｓ－Ｌ的表达。结果 ＳＬＥ及ＤＬＥ早期皮损朊细胞Ｆａｓ抗原表达强度显著高于正常皮肤（Ｐ〈０．０１）,与病程呈负相关（Ｐ〈０．０５）,且真皮中单一核细胞亦有Ｆａｓ抗原表达;红斑狼疮患者皮损及正常皮肤的角朊细胞均     

Chronic Graft-versus-Host Disease with Follicular Involvement

The clinical and histopathological findings in a 25-year-old Japanese male patient who suffered from chronic graft-versus-host-disease (GVHD) with follicular involvement are described. The patient had been diagnosed as aplastic anemia and underwent an allogeneic bone marrow transplant (BMT). In the eighth month thereafter, pruritic follicular red papules developed over his trunk and extremities. A biopsy specimen revealed histological exocytosis of lymphocytes into the hair follicles and basal-cell vacuolization of the follicular epithelium. Analysis of T-lymphocyte subpopulations in the dermis revealed a predominance of CD4 positive cells. To our knowledge, several cases of acute follicular GVHD have been reported (1, 2); however, the occurrence of chronic GVHD with follicular involvement (chronic follicular GVHD) has not been clearly documented.