Juvenile dermatomyositis resembling late-stage Degos disease with gastrointestinal perforations successfully treated with combination of cyclophosphamide and rituximab: case-based review.

Dermatomyositis (DM) is a multi-system disease that results in chronic inflammation principally of the skin and striated muscle. Small blood vessel injury in the GI tract has been described in dermatomyositis, manifesting as bleeding, ulceration, pneumatosis intestinalis, and ultimately perforation. Recent histopathological studies have shown deposits in the capillaries of the skin, gastrointestinal tract, and brain of patients with dermatomyositis similar to that found in patients with Degos disease, suggesting these disease processes are closely related or represent varying degrees of severity on the same pathologic spectrum. We report a case of juvenile dermatomyositis (JDM) resembling late-stage Degos disease with gastrointestinal perforations successfully treated with combination rituximab and cyclophosphamide therapy. We systematically reviewed the literature detailing the medical and surgical treatments for gastrointestinal perforation in dermatomyositis, Degos-like dermatomyositis, and Degos disease. In addition to our case, as of October 2019, we identified 36 cases describing gastrointestinal perforation in patients with underlying dermatomyositis, 5 cases of Degos-like dermatomyositis and 17 cases of idiopathic Degos disease. Corticosteroid therapy was used widely for dermatomyositis and Degos-like dermatomyositis, while antiplatelet and anticoagulant medications were chiefly used for patients with idiopathic Degos disease. However, there were no cases that detailed the successful treatment of dermatomyositis or Degos disease with gastrointestinal perforation with rituximab alone or combined with cyclophosphamide. We report that rituximab, in combination with cyclophosphamide, can be used as a novel adjunctive therapy to successfully treat dermatomyositis with Degos-like gastrointestinal perforation.

Scanning Electron Microscopic Hair Shaft Analysis in Ectodermal Dysplasia Syndromes.

OBJECTIVES: The objective of the current study was to catalog hair shaft abnormalities in individuals with ectodermal dysplasia (ED) syndromes using scanning electron microscopy (SEM) and to compare the findings with those in unaffected controls. This is the second of a two-part study, the first of which used light microscopy as the modality and was previously published. METHODS: Scanning electron microscopy was performed in a blinded manner on hair shafts from 65 subjects with seven types of ED syndromes and 41 unaffected control subjects. Assessment was performed along the length of the shaft and in cross section. SETTING: Hair donations were collected at the 28th Annual National Family Conference held by the National Foundation for Ectodermal Dysplasia. Control subjects were recruited from a private dermatology practice and an academic children's hospital outpatient dermatology clinic. RESULTS: SEM identified various pathologic hair shaft abnormalities in each type of ED and in control patients. When hairs with all types of ED were grouped together and compared with those of control patients, the difference in the presence of small diameter and shallow and deep grooves was statistically significant (p < 0.05). When the EDs were separated according to subtype, statistically significant findings were also seen. CONCLUSION: SEM is a possible adjuvant tool in the diagnosis of ED syndromes. There are significant differences, with high specificity, between the hairs of individuals with ED and those of control subjects and between subtypes.

Gianotti-Crosti syndrome following childhood vaccinations.

A 19-month-old boy was evaluated for a skin eruption after recent vaccinations. Clinical and histopathologic findings supported a diagnosis of Gianotti-Crosti syndrome (GCS). This case report examines the link between GCS and vaccinations, particularly the diphtheria, tetanus, and pertussis vaccine and the varicella virus live vaccine.

Light microscopic hair shaft analysis in ectodermal dysplasia syndromes.

The objective of the study was to catalog hair shaft abnormalities in individuals with ectodermal dysplasia (ED) syndromes using light microscopy and to compare findings with those in unaffected controls. Light microscopy was performed in a nonblinded manner on hair shafts from 65 participants with seven types of ED (hypohidrotic ED, ED-ectrodactyly-cleft lip or palate, ankyloblepharon-ectodermal defects-cleft lip and palate, Clouston syndrome, Goltz syndrome, Schopf-Schulz Passarge syndrome, and oculodentodigital dysplasia) and 41 unaffected controls. Hair donations were collected at the 28th Annual National Family Conference held by the National Foundation for Ectodermal Dysplasia. Control participants were recruited from a private dermatology practice and an academic children's hospital outpatient dermatology clinic. Sixty-five affected participants and 41 unaffected controls were included in the analysis. We assessed the hair shafts of ED and control participants for abnormalities visible using LM. Light microscopy identified various pathologic hair shaft abnormalities in each type of ED, although none of the findings were statistically significantly different from those of the control group. Light microscopy is a poor adjuvant tool in the diagnosis of ED syndromes. Most findings are nonspecific and not sufficiently sensitive.

Exploring the differential diagnosis of hemorrhagic vesicopustules in a newborn.

Hemorrhagic vesicles in a newborn present a challenging differential diagnosis including both infectious and neoplastic disorders. Patients should be evaluated in an efficient manner to arrive at the correct diagnosis as quickly as possible. We present here an interesting case that outlines the methodical workup that ultimately revealed the diagnosis of congenital Langerhans cell histiocytosis. After a diagnosis of Langerhans cell histiocytosis is made, it is important to evaluate the patient thoroughly for systemic involvement. Historically, the diagnosis of congenital self-healing Langerhans cell histiocytosis was used to delineate a benign self-limited disorder limited to the skin with spontaneous resolution during the first several months of life; this disorder may also be referred to as "self-regressive Langerhans cell histiocytosis." However, some newborns with initial skin-only Langerhans cell histiocytosis progress to have multisystem disease after spontaneous resolution has occurred. For this reason, the nomenclature is changing. We suggest using the term "skin-only Langerhans cell histiocytosis." Periodic long-term follow-up is recommended to monitor for relapse or progression to systemic disease.

Two reports of phacomatosis pigmentovascularis type IIb, one in association with Sturge-Weber syndrome and Klippel-Trenaunay syndrome.

We present two rare cases of phacomatosis pigmentovascularis type IIb, with one patient demonstrating concurrent Sturge-Weber syndrome and Klippel-Trenaunay syndrome. To the best of our knowledge, this is the second infantile case meeting diagnostic criteria for systemic phacomatosis pigmentovascularis type IIb, Sturge-Weber syndrome and Klippel-Trenaunay syndrome in the English language literature.

Sweet syndrome in infancy.

Sweet syndrome, or acute febrile neutrophilic dermatosis, is characterized by the presence of fever, peripheral leukocytosis, painful erythematous plaques and nodules, and a predominately neutrophilic dermal infiltrate. We report a case occurring in a 10-week-old male child, with preceding upper respiratory tract, and gastrointestinal infection symptoms. Sweet syndrome occurring in an infant should prompt a work-up for immunodeficiency, as well as a review of the peripheral blood smear to rule out the rare case of malignancy.

Congenital herpes simplex virus infection: two unique cutaneous presentations associated with probable intrauterine transmission.

Cutaneous manifestations of congenital herpes simplex virus (HSV) have been classically described as grouped vesicles on an erythematous base. We report two cases of HSV infection wherein both infants presented at birth with widespread erosions and an absence of vesicles or vesicopustules. The presence of skin lesions at birth, neurologic changes seen on radiographic imaging, and a cesarean section delivery in one case suggests intrauterine transmission in both neonates.

Human papillomavirus vaccine: recommendations, issues and controversies.

PURPOSE OF REVIEW: The human papillomavirus vaccine is now Food and Drug Administration-approved for girls and young women ages 9-26 years and Advisory Committee on Immunization Practices-recommended for girls ages 11-12 years of age. Several issues have shrouded its debut and continue to provide controversy that may hinder effective delivery of this vaccine to young people in industrialized as well as third world countries. RECENT FINDINGS: The quadrivalent and divalent vaccines are compared, particularly with respect to juvenile recurrent respiratory papillomatosis. Recommendations for administration are summarized. Immunization of men and cost effectiveness are discussed. Issues regarding compulsory vaccination and attitudes of parents about human papillomavirus vaccination are reviewed. SUMMARY: Studies of the human papillomavirus vaccine are very promising, showing excellent efficacy and very few adverse events. It remains to be determined if it will be licensed in the United States for use in boys and men. Some stumbling blocks to implementing the vaccine in the United States need to be addressed in order to gain widespread acceptance.

Prevalence of scalp scaling in prepubertal children.

OBJECTIVE: To determine the prevalence and most common etiologies of scalp scaling in infants and prepubertal children and the specificity of head and neck lymphadenopathy for the diagnosis of tinea capitis associated with scalp scaling. DESIGN/METHODS: A cross-sectional study of 300 children, 200 from an urban general pediatric practice and 100 from 2 urban pediatric dermatology practices, was conducted. Half of the subjects were <2 years old, and half were 2 to 10 years old. Demographic data, medical history, and clinical data noting the presence of scalp scaling and other scalp signs and symptoms, as well as adenopathy of the head and neck, were collected. RESULTS: Scalp scaling was seen in 66 (22%) children. There was an insignificantly higher prevalence of scalp scaling in those <2 years old compared with the 2- to 10-year-old group. In those <2 years old with scalp scaling, the most common diagnoses were seborrheic dermatitis (thick, adherent, greasy scale predominantly in the frontal and/or vertex areas of the scalp) and atopic dermatitis/eczema. Among those 2 to 10 years old with scalp scaling, the most common diagnoses were nonspecific (fine, white) scaling, seborrheic dermatitis, and atopic dermatitis/eczema. Nine (3%) patients were culture-positive for a dermatophyte, all of whom were black, and grew Trichophyton tonsurans. More than half (52.7%) of all patients had head and neck adenopathy. The presence of posterior nodes was significantly associated with atopic dermatitis/eczema and marginally associated with a positive dermatophyte culture. The presence of scalp scaling plus posterior adenopathy was significantly associated with seborrheic dermatitis and a positive dermatophyte culture in the entire study population and with atopic dermatitis in the pediatric dermatology clinics. CONCLUSIONS: Scalp scaling was common in children 0 to 10 years old. Infantile-type seborrheic dermatitis was noted in both age groups: it was 3 times as likely in children <2 years old (18%) than in those 2 to 10 years old (6%). Contrary to traditional teaching, seborrheic dermatitis can be found in preadolescent children. Atopic dermatitis/eczema was associated with scalp scaling in both age groups. Head and neck adenopathy was very common and nonspecific for any 1 diagnosis. Posterior adenopathy with concurrent scalp scaling was significantly associated with seborrheic dermatitis, a positive dermatophyte culture, and atopic dermatitis. In this nonselected pediatric population, scalp scaling with adenopathy was not associated exclusively with tinea capitis.

Successful treatment of bowenoid papulosis in a 9-year-old girl with vertically acquired human immunodeficiency virus.

A 9-year-old black girl with vertically acquired human immunodeficiency virus (HIV) and no history of condyloma acuminata presented with a 4-year history of enlarging and spreading dark brown flat papules in the perineum. Some of the lesions were confluent and extended from the clitoris to the labia majora and posteriorly to the buttocks and perianal region. A biopsy of one of the lesions showed bowenoid features. Our patient had a normal Pap smear, but vaginal and cervical biopsy specimens revealed human papillomavirus type 16. Therapy with topical imiquimod cream every other day was started, but little improvement was noted after 2 months. Application of 25% podophyllin every 4 to 8 weeks was added, and improvement was noted within 1 month. After 1 year of treatment, the patient had complete resolution of all lesions, and she has had no further appearance of lesions. Our case emphasizes the need for increased awareness of the potential for development of bowenoid papulosis in HIV-positive children as well as the successful treatment of our patient with topical therapy alone.