Amy E. Gilliam

The Stiff Skin Syndrome Case Series, Differential Diagnosis of the Stiff Skin Phenotype, and Review of the Literature

BACKGROUND Stiff skin syndrome is a sclerodermalike disorder that presents in infancy or early childhood with rock-hard skin, limited joint mobility, and mild hypertrichosis in the absence of visceral or muscle involvement, immunologic abnormalities, or vascular hyperreactivity. OBSERVATIONS We describe 6 children who fit criteria for stiff skin syndrome. A review of the clinical range of this disorder and discussion of the differential diagnosis is presented. The age at onset in our cases ranged from infancy to 6 years of age. Stony-hard skin was noted mostly on the thighs, buttocks, and lower back with shoulder and arm involvement in 2 cases. There was associated hypertrichosis in 3 of 6 cases. Extracutaneous manifestations consisted primarily of joint restriction, and several patients had resulting postural and thoracic wall irregularities. Histopathologically, our cases showed areas of fascial sclerosis or showed increased fibroblast cellularity with thickened, sclerotic, horizontally oriented collagen bundles in the deep reticular dermis and/or subcutaneous septa without associated inflammation. CONCLUSIONS Stiff skin syndrome is characterized by an early, insidious onset of stony-hard skin, often with associated contracturelike joint restriction, hypertrichosis, and postural and thoracic wall abnormalities. Supportive histopathologic findings consisting of either fascial sclerosis or increased fibroblast cellularity with sclerotic collagen bundles in the deep reticular dermis and/or subcutaneous septa may help to confirm this diagnosis.

Pediatric teledermatology: Observations based on 429 consults

BACKGROUND Store-and-forward teledermatology is an emerging means of access for patients with skin disease lacking direct access to dermatologists. OBJECTIVES We sought to examine the patient demographics, diagnostic concordance, and treatment patterns in teledermatology for patients younger than 13 years. METHODS We conducted a descriptive retrospective cohort study involving 429 patients. RESULTS Diagnoses were concordant in 48% of cases, partially concordant in 10%, and discordant in 42%. Management recommendations were concordant in 28% of cases, partially concordant in 36%, and discordant in 36%. Primary care providers tended to underuse topical steroids and overuse topical antifungals and systemic antibiotics. Only 1.4% and 6.0% of patients required repeated teledermatology consultation and in-person dermatology consultation, respectively. LIMITATIONS Limitations were the inability to generalize the data from the population studied and the chances of error and bias in teledermatology diagnoses. CONCLUSIONS Store-and-forward teledermatology can improve diagnostic and therapeutic care for skin disease in children who lack direct access to dermatologists.

Two Pediatric Cases of Nonbullous Histiocytoid Neutrophilic Dermatitis Presenting as a Cutaneous Manifestation of Lupus Erythematosus

BACKGROUND Nonbullous neutrophilic dermatoses are seen infrequently in association with lupus erythematosus (LE). A recently described histopathologic variant of Sweet syndrome, to our knowledge, histiocytoid Sweet syndrome (HSS) has not been described in either pediatric or adult patients with LE. OBSERVATIONS We describe 2 pediatric patients with nonbullous histiocytoid neutrophilic dermatitis in the setting of LE. One case represents the initial presentation of subacute cutaneous LE, while the other case represents a manifestation of established systemic LE. Both cases demonstrate histopathologic findings of HSS. CONCLUSIONS We believe that the dermatosis observed in these 2 patients represents a nonbullous histiocytoid neutrophilic dermatosis that is best termed HSS. This entity may represent a distinct and important cutaneous manifestation of LE. Additional study is needed to further elucidate the relationship between neutrophilic dermatitis and LE.

Gastrointestinal bleeding in infantile hemangioma: A complication of segmental, rather than multifocal, infantile hemangiomas

OBJECTIVE To highlight an association of facial segmental hemangiomas with gastrointestinal bleeding in infants with infantile hemangiomas. STUDY DESIGN We conducted a multicenter retrospective case series study. RESULTS Ten female patients met study inclusion criteria; 8 were Caucasian, 9 had a facial segmental hemangioma, and 9 cases met the diagnostic criteria for definitive posterior fossa malformations, hemangioma, arterial lesions, cardiac anomalies/coarctation of the aorta and eye abnormalities syndrome with abnormalities of the aorta and cerebral arteriopathy. Severe gastrointestinal bleeding requiring blood transfusion occurred in 9 cases, with age at presentation of gastrointestinal bleeding ranging from 8 days to 6 months. When detected, the location of the hemangioma in the small intestine was in the distribution of the superior mesenteric artery. More than one agent was required to control the gastrointestinal bleeding, including oral or intravenous steroids, vincristine, oral propranolol, interferon, and resection of the small intestine. All cases needed ongoing support care with red blood cell transfusions. CONCLUSIONS Gastrointestinal bleeding is a rare complication of true infantile hemangioma. The segmental pattern of the cutaneous hemangioma associated with gastrointestinal bleeding should suggest a segmental infantile hemangioma of the lower gastrointestinal tract.

Clinicohistopathological correlations in juvenile localized scleroderma: Studies on a subset of children with hypopigmented juvenile localized scleroderma due to loss of epidermal melanocytes

BACKGROUND Localized scleroderma or morphea is a connective tissue disorder characterized by fibrosis of the skin and subcutaneous tissue. Excessive accumulation of collagen underlies the fibrosis, yet the pathogenesis is unknown. A subset of localized scleroderma/morphea, juvenile localized scleroderma (JLS), affects children and adolescents. OBJECTIVES The clinical and microscopic features of JLS have not been fully characterized. The goal is to better characterize the microscopic features of JLS. METHODS We collected a distinctive data set of 35 children with JLS, 19 (54%) of whom presented with hypopigmented lesions, and performed a retrospective chart and pathology review. We had adequate tissue for immunostaining studies on 8 of these individuals. RESULTS We found that: (1) CD34 and factor XIIIa immunostaining, reported previously in adult morphea and scleroderma, when used with clinical information, is valuable for confirming a diagnosis of JLS; and (2) presence of hypopigmented lesions in JLS correlates with immunostaining studies. Decreased numbers of MelanA(+) melanocytes were present at the dermoepidermal junction in lesional skin in two of 3 children with hypopigmented JLS and in two of 4 children with nonhypopigmented JLS. LIMITATIONS The number of cases is small, a function of the small number of children who have biopsy specimens with material sufficient for multiple immunostaining procedures. CONCLUSIONS These results provide a useful immunostaining method for confirmation of the diagnosis of JLS. They suggest a complex autoimmune phenotype in some children with JLS.

Localized Forms of Scleroderma

Morphea, also called localized scleroderma, is a fibrosing disorder that resembles scleroderma (systemic sclerosis) microscopically, but typically has a quite different clinical presentation, course and possible pathophysiology. The individual with morphea has single or multiple circumscribed indurated cutaneous plaques that can have variable appearances, depending on the subtype (see classification below and Table 12.1). The main variants are circumscribed or plaque-type morphea (Fig. 12.1a), generalized morphea (Fig. 12.1b), linear morphea (Figs. 12.1c–f and 12.2a–d), and deep morphea or morphea profunda. Unlike scleroderma, systemic disease and involvement of internal organs are uncommon in morphea.

Skin signs of systemic disease in childhood.

Several systemic disorders of childhood are characterized by cutaneous stigmata, and these skin signs can serve as important diagnostic clues. Many of the systemic illnesses that are seen in both the pediatric and adult populations often manifest in different ways with respect to their cutaneous features. Also, there are conditions that uniquely present in childhood, such as KD, HSP, acute hemmorhagic edema of infancy, and NOMID. Early recognition of these disorders is important for initiation of appropriate therapy and prevention of adverse outcomes.

Pediatric Dermatology Clinical-Pathologic Case “Mimickers”

Herein are presented a collection of pediatric dermatology “mimickers.” We have selected three cases in which the suspected clinical diagnosis was overturned by the histopathology findings.