Bullous Aplasia Cutis as a Presenting Sign of Encephalocele.

This case report describes a congenital cystic scalp nodule on a 2-week-old infant.

Subcutaneous fat necrosis of the newborn: A retrospective study of 32 infants and care algorithm.

OBJECTIVE: To describe the clinical and laboratory outcomes of infants with subcutaneous fat necrosis of the newborn (SCFN) and propose a care algorithm. METHODS: This single-center, retrospective study of infants diagnosed with SCFN at Ann & Robert H. Lurie Children's Hospital of Chicago from 2009 to 2019. RESULTS: Of 32 infants who met inclusion criteria, most were born full-term (84%), born via cesarean section (58%), had normal weight for gestational age (69%), and experienced delivery complications (53%). Twenty-nine infants (91%) had calcium drawn, and all had hypercalcemia. Three infants developed clinical symptoms of hypercalcemia, two required hospital admission, two developed nephrocalcinosis, and one developed acute kidney injury. The majority of infants (62%) had a peak ionized calcium between 1.5 and 1.6 mmol/L. No infants with peak ionized calcium less than 1.5 mmol/L developed complications of hypercalcemia. Most patients were diagnosed with hypercalcemia (86%) and demonstrated peak ionized calcium levels (59%) within the first 28 days of life. No patients developed hypercalcemia after 3 months of age. CONCLUSION: Hypercalcemia occurred in 100% of infants who had laboratory monitoring. We recommend obtaining an initial ionized calcium level when SCFN is suspected, and monitoring for the first 3 months of life if hypercalcemia has not been detected. In patients with asymptomatic hypercalcemia less than 1.5 mmol/L, there appears to be low likelihood of related complications. For symptomatic, markedly elevated (>1.6 mmol/L), or persistently elevated levels (>6 months) we suggest coordinated care with endocrinology or nephrology, consider hospitalization, and urinary system ultrasound.

Risk factors for the development of Spitz neoplasms.

BACKGROUND/OBJECTIVES: The principal environmental risk factor for conventional nevi and melanomas is ultraviolet exposure. However, little is known about genetic or environmental risk factors for developing Spitz tumors. This study investigates risk factors associated with Spitz neoplasms. METHODS: Patients with Spitz tumors seen at Northwestern Memorial Hospital and Lurie Children's Hospital were surveyed with a 16-item questionnaire about environmental and inherited factors. Spitz tumor patients were compared to a pediatric control cohort from a similar clinical setting. This was supplemented with a meta-analysis of genetic and environmental causes of Spitz neoplasms. RESULTS: One hundred and six Spitz and 58 control surveys were obtained and no statistically significant differences in genetic or environmental risk factors were found between Spitz and control groups. CONCLUSION: Our data and meta-analysis suggest that typical risk factors associated with melanoma are not significantly associated with Spitz tumors. Identification of relevant genetic or environmental risk factors will likely require larger and population-based studies.

Henoch Schonlein purpura in pediatric patients with inflammatory bowel disease: A case series.

Retrospective chart review was conducted to identify the clinical features of Henoch Schonlein purpura (HSP) in five children with inflammatory bowel disease (IBD). All five children, four of which were on anti-TNF therapies, experienced the onset of HSP after their IBD diagnosis. HSP averaged 20.8 months in duration. The patients in our cohort, particularly those on anti-TNF therapy for inflammatory bowel disease, experienced chronic and recurrent courses of HSP.

Suture boots: an aid for the injection of onabotulinum toxin a for primary focal hyperhidrosis.

Primary focal hyperhidrosis is a difficult problem for adults, children, and adolescents, causing significant impairment in quality of life. Onabotulinum toxin A injection is an effective third-line treatment for primary focal hyperhidrosis. Here we describe a technique to ensure adequate depth of botulinum toxin placement in the dermis using suture boots as an aid for injection.

Superficial paramucosal clear cell sarcoma of the soft parts resembling melanoma in a 13-year-old boy.

Clear cell sarcoma (CCS) of tendons and aponeuroses, also known as melanoma of soft parts, represents an aggressive rare malignancy that is characterized by a nested or fascicular pattern of spindled cells and a pathognomonic reciprocal translocation, t(12;22)(q13;q12), that results in the fusion of EWSR1 and ATF1 genes. Numerous recent studies have recognized the importance of a cutaneous CCS variant that can mimic a broad spectrum of entities, including spindle cell melanoma, spindle cell squamous carcinoma, cutaneous leiomyosarcoma and atypical fibroxanthoma. We report a case of a 13-year-old boy with cutaneous CCS who presented with a few months history of an asymptomatic papule on the lower lip that was suggestive of a mucocele. Biopsy of the lesion showed a wedge shaped neoplasm arranged in nests and fascicles of epithelioid- to oval-shaped cells with pale cytoplasm, open chromatin and prominent nucleolus. The superficial component was closely opposed to the basal epithelium resembling the junctional nests of a melanocytic neoplasm. The process extended into and involved the striated muscle of the lip. The cells expressed S-100, CD99 and synaptophysin by immunohistochemistry, and there was focal HMB-45 and microphthalmia transcription factor (MiTF) positivity as well. Fluorescence in situ hybridization confirmed the presence of the t(12;22) (ESWR1-ATF1) translocation.

Failure to thrive in infants with complicated facial hemangiomas.

We have observed that some children with facial hemangiomas of infancy have feeding difficulties coincident with periods of failure to thrive. We evaluated the early oral sensory and feeding experiences of four children with facial hemangiomas through medical record review and parental surveys to investigate their contribution to the patients' failure to thrive. All children with feeding irregularities experienced some degree of oral sensory impairment and required early oral sensory intervention, but there were varying reports of difficulty or delay in the development of oral feeding. The nature of these difficulties is discussed. Infants with complicated facial hemangiomas with perioral and airway involvement may be at higher risk for feeding and oral sensory problems. We recommend close monitoring for failure to thrive and early evaluation by speech or occupational therapists.

LUMBAR: association between cutaneous infantile hemangiomas of the lower body and regional congenital anomalies.

OBJECTIVE: To define the clinical spectrum of regional congenital anomalies associated with large cutaneous hemangiomas of the lower half of the body, clarify risk for underlying anomalies on the basis of hemangioma location, and provide imaging guidelines for evaluation. STUDY DESIGN: We conducted a multi-institutional, retrospective case analysis of 24 new patients and review of 29 published cases. RESULTS: Hemangiomas in our series tended to be "segmental" and often "minimal growth" in morphology. Such lesions were often extensive, covering the entire leg. Extensive limb hemangiomas also showed potential for extracutaneous anomalies, including underlying arterial anomalies, limb underdevelopment, and ulceration. The cutaneous hemangioma and underlying anomalies demonstrated regional correlation. Myelopathies were the most common category of associated anomalies. CONCLUSIONS: We propose the acronym "LUMBAR" to describe the association of Lower body hemangioma and other cutaneous defects, Urogenital anomalies, Ulceration, Myelopathy, Bony deformities, Anorectal malformations, Arterial anomalies, and Renal anomalies. There are many similarities between LUMBAR and PHACE syndrome, which might be considered regional variations of the same. Although guidelines for imaging are suggested, prospective studies will lead to precise imaging recommendations and help determine true incidence, risk and long-term outcomes.

Difficult-to-control bleeding.

A 12-year-old girl presented for excision of a nevus sebaceous of the scalp. The surgery was complicated by unexpected difficult-to-control bleeding in the operating room. Numerous attempts to obtain hemostasis were unsuccessful including the use of local anesthetic containing epinephrine, direct pressure, wall suction, monopolar electrocautery using different tip sizes, sponge sticks, and Gelfoam. Finally bleeding was contained using a suction-electocautery unit frequently used by otolaryngology. This article reviews the usual causes of unexpected bleeding in the pediatric population and both familiar and unfamiliar methods to control operative bleeding.

Toddler wrap for abdominal biopsy or excision.

Young children, especially toddlers, are anxious and uncooperative during skin procedures. Wrapping a sheet or blanket around the child is an effective way to restrain the child to maintain a sterile field. The wrap can be used for skin biopsies and small excisions on the midsection of the body, arms, and legs.

The nasal crease sign in segmental facial hemangioma--an early sign of cartilage destruction.

Although the majority of hemangiomas of infancy do not require treatment, a subset of patients have complications such as ulceration, functional impairment or severe disfigurement that necessitate intervention. It is often difficult to predict which hemangiomas will lead to permanent disfigurement and medical complications. We present three patients with segmental facial hemangiomas involving the nose which resulted in nasal cartilage destruction. All three patients had a linear gray atrophic crease in the inferior columella visualized on clinical examination prior to the onset of nasal collapse. We propose that this ''nasal crease sign'' in infants with segmental facial hemangioma involving the nose and philtrum may be a premonitory clinical finding of impending nasal cartilage destruction. Dermatologists should be aware of this clinical sign which may help identify patients at high risk of nasal destruction. Unfortunately, aggressive medical intervention may not always prevent devastating disfigurement.

Complications following pulsed dye laser treatment of superficial hemangiomas.

BACKGROUND AND OBJECTIVE: Pulsed dye laser (PDL) has been reported to be safe and effective in the management of superficial hemangiomas of infancy. We report 12 patients with hemangiomas with complications following PDL. STUDY DESIGN/MATERIALS AND METHODS: Records of patients with hemangiomas and a known adverse outcome following PDL were reviewed. RESULTS: All were treated early (age range: 5 days to 4 months), and all hemangiomas were facial with a superficial component. Eleven were treated with a 585 nm wavelength, fluence range of 4.7-7 J/cm(2), without dynamic cooling. One patient received 7-12 J/cm(2) utilizing a 595 nm wavelength with dynamic cooling. In eight cases, treatment led to severe ulceration with subsequent pain, scarring, and in one instance, life-threatening hemorrhage. In four, permanent atrophic scarring was noted without ulceration. CONCLUSIONS: PDL treatment of superficial hemangiomas may rarely lead to significant complications including atrophic scarring and severe ulceration.

Tacrolimus ointment promotes repigmentation of vitiligo in children: a review of 57 cases.

BACKGROUND: Vitiligo is an autoimmune disorder characterized by loss of pigmentation. Phototherapy and application of topical corticosteroids are most commonly prescribed. However, these therapies are often not effective and use of corticosteroids on the face may lead to cutaneous atrophy, telangiectasia, and ocular complications. OBJECTIVE: We sought to assess the efficacy of topical tacrolimus ointment in the treatment of pediatric vitiligo. METHODS: A retrospective review was performed of 57 pediatric patients with vitiligo at two clinical sites. Patients were treated with tacrolimus ointment for at least 3 months. Clinical responses were documented during clinic visits, and by pretacrolimus and posttacrolimus photography. RESULTS: At least partial response was noted to tacrolimus ointment on the head and neck in 89%, and on the trunk and extremities in 63% of patients. Facial vitiligo of the segmental type showed the best response rate. Two patients initially experienced burning on application. CONCLUSIONS: Topical tacrolimus ointment is an effective alternative therapy for childhood vitiligo, particularly involving the head and neck.

Verruciform xanthoma in association with milroy disease and leaky capillary syndrome.

An 18-year-old Caucasian boy with Milroy disease involving the right leg presented with erythematous, smooth-topped, waxy papules on the dorsum of his right foot. A 12-year-old Caucasian girl with leaky capillary syndrome presented with hemorrhagic verrucous papules on the dorsum of the toes of both feet. Histopathologic analysis revealed changes consistent with xanthoma. Both patients were treated with leg compression, curettage, and electrodesiccation. Although similar papules have been described in the setting of lymphedema from other causes, this is the first report of verruciform xanthoma associated with Milroy disease or leaky capillary syndrome.

Congenital dermatofibrosarcoma protuberans: variability in presentation.

BACKGROUND: Dermatofibrosarcoma protuberans (DFSP) is an uncommon low-grade fibrohistiocytic tumor that usually occurs on the trunk or proximal extremities and typically appears during the second to fifth decade of life. It most commonly begins as a red-blue plaque that grows slowly and ultimately becomes nodular. The tumor is associated with a high recurrence rate but low metastatic potential. It rarely presents in childhood and is even more rarely present at birth. The clinical diagnosis of DFSP in infancy or childhood may be difficult because, in its early stages, the tumor often resembles a vascular birthmark. OBSERVATIONS: We studied 6 patients with congenital DFSP who were initially thought to have other diagnoses, highlighting the potential clinical variability in presentation. Half of the cases in this series occurred in areas of the body outside of the typically reported distribution pattern of acquired DFSP and in locations that, therefore, may not arouse suspicion of congenital DFSP. CONCLUSIONS: Given the aggressive local potential and high recurrence rate of DFSP, early diagnosis is preferable to facilitate appropriate excision. We recommend that any infant or child presenting with a cutaneous plaque or nodule, even congenital, that does not have characteristic or diagnostic clinical features undergo tissue biopsy for histologic evaluation.