David R. Berk

Melanoma and Melanocytic Tumors of Uncertain Malignant Potential in Children, Adolescents and Young Adults—The Stanford Experience 1995–2008

Abstract:  Pediatric melanoma is difficult to study because of its rarity, possible biological differences in preadolescents compared with adolescents, and challenges of differentiating true melanoma from atypical spitzoid neoplasms. Indeterminant lesions are sometimes designated as melanocytic tumors of uncertain malignant potential (MelTUMPs). We performed a retrospective, single‐institution review of melanomas, MelTUMPs and Spitz nevi with atypical features (SNAFs) in patients at 21 years of age and younger from 1995 to 2008. We identified 13 patients with melanoma, seven with MelTUMPs, and five with SNAFs. The median age for melanoma patients was 17 years, 10 for MelTUMPs, and six for SNAFs. Of the 13 melanoma patients, only four were younger than 15 years, while six were adolescents, and three were young adults. Nine melanoma patients (69%) were female. The most common histologic subtype was superficial spreading. The median depth for melanomas was 1.2 mm, and 3.4 mm for MelTUMPs. Microscopic regional nodal involvement detected on elective or sentinel lymph node (SLN) dissection was present in 2/10 (20%) of primary melanomas and 2/6 (33%) of Mel‐TUMPs. Complete lymphadenectomy was performed on four melanoma patients, with three positive cases. Patient outcome through March 31, 2009 revealed no in‐transit or visceral metastasis in patients with MelTUMPs or SNAFs. One SLN‐positive patient (8%) with melanoma developed recurrent lymph node and liver metastasis and died 15 months after primary diagnosis. Our data highlight the rarity, female predominance, and significant rate of SLN positivity of pediatric melanoma. The high rate of MelTUMPs with regional nodal disease reinforces the need for close follow‐up.

Acute genital ulcers in nonsexually active young girls: case series, review of the literature, and evaluation and management recommendations.

Abstract:  Acute genital ulcers rarely occur in nonsexually active young girls. When present, they can cause significant physical and emotional distress for the patient and her parents, and prompt an evaluation for sexual abuse and sexually transmitted diseases. With this review, we aim to further characterize acute genital ulcers in nonsexually active young girls by reviewing the medical records of patients with this disorder and to offer an approach to the diagnosis, evaluation, and treatment of acute genital ulcers based on our understanding and knowledge of this condition. We retrospectively review our understanding and knowledge of acute genital ulcers in nonsexually active girls at a pediatric hospital. A review of the recent literature on acute genital ulcers and a multidisciplinary approach to the diagnosis, evaluation, and treatment of acute genital ulcers are also presented. Twelve patients presented with acute genital ulcers, 11 of which were hospitalized for evaluation and pain management. Extensive work‐up failed to reveal a specific infectious or autoimmune etiology in all but one patient, who was diagnosed with acute mycoplasma pneumonia. Acute genital ulcers in nonsexually active young girls likely represent a form of idiopathic vulvar aphthosis. Evaluation of a first episode of acute genital ulcers with mild prodromal symptoms should be limited. Treatment consists primarily of supportive care and symptom relief.

Terra firma-forme dermatosis: a retrospective review of 31 patients.

Abstract:  Terra firma‐forme dermatosis is an idiopathic condition characterized by acquired, dirtlike plaques despite normal hygiene. A diagnosis can be reached by removing lesions with gentle alcohol swabbing. Although Terra firma‐forme dermatosis was first described more than 20 years ago and is thought to be not uncommon in clinical practice, it has never been systematically studied. There are few publications about this condition, including no case series of more than six patients. In particular, little is known about the incidence, peak age groups, and most common locations of Terra firma‐forme dermatosis. A retrospective review was conducted to identify cases of Terra firma‐forme dermatosis in a single‐provider practice consisting of 55% pediatric and 45% adult patients. Thirty‐one patients with Terra firma‐forme dermatosis were identified, including 10 who presented with Terra firma‐forme dermatosis as their primary concern. Only two patients were older than 17 years. The median duration of lesions was 4 months. The most common lesion locations were the neck, ankles, and face. Before presenting to the dermatology clinic, three patients had undergone endocrine evaluations, and four had been prescribed topical corticosteroids. Terra firma‐forme dermatosis is relatively common and most often occurs in children on the neck or posterior malleolus. This series exemplifies the importance of recognizing Terra firma‐forme dermatosis so as to provide rapid relief for patients and avoid unnecessary tests and treatments.

Diagnosing Epidermolysis Bullosa Type and Subtype in Infancy Using Immunofluorescence Microscopy: The Stanford Experience

The natural history of inherited epidermolysis bullosa (EB) varies significantly across subtypes. When confronted with an infant suspected to have EB, rapidly determining the type and subtype is critical in counselling families accurately about the infants diagnosis and prognosis. Although transmission electron microscopy (TEM) has been considered the criterion standard for EB diagnosis, immunofluorescence microscopy (IFM) using monoclonal antibodies (mAbs) to EB‐specific basement membrane zone proteins has several advantages, but few studies have evaluated the diagnostic utility of IFM. We sought to evaluate the clinical utility of IFM using an expanded panel of EB‐specific mAbs. This was a retrospective review of pathology reports from infants younger < 1 year old with suspected EB primarily analyzed with IFM by the Stanford Dermatopathology service. Seventy‐seven cases were identified for analysis, of which 20 were suboptimal for IFM analysis. Fifty‐five cases were diagnosed with EB and classified as follows: EB simplex (n = 5), junctional EB (n = 31), dystrophic EB (n = 19). TEM was available in 36 of 55 cases (65%). IFM with an expanded panel of EB‐specific mAbs should be considered the first‐line diagnostic test to evaluate infants with clinically suspected EB.

Cutaneous Collagenous Vasculopathy: Report of the First Pediatric Case

Abstract:  We describe a 16‐year‐old girl who presented with a 3‐year history of telangiectatic patches on the extremities and trunk. Skin biopsies demonstrated dilated vessels with thickened walls containing hyaline material in the papillary dermis, resembling those seen in systemic amyloidosis, porphyrias, or lipoid proteinosis. A diagnosis of cutaneous collagenous vasculopathy was made. To our knowledge, cutaneous collagenous vasculopathy has previously only been described in adults aged 50 and older.

Scalp discoloration from selenium sulfide shampoo: a case series and review of the literature.

Abstract:  We describe six patients who developed orange to red–brown scalp discoloration after application of selenium sulfide–containing shampoos. This phenomenon has been described only once previously. In all of the cases, the discoloration resolved shortly after discontinuing the selenium sulfide. Lightly swabbing with isopropyl alcohol facilitated removal of the discoloration. This simple technique serves as a painless diagnostic method, which may prevent unnecessary evaluation with a biopsy.

Scleral Hemangioma: Case Report and Response to Propranolol

Abstract:  Scleral infantile hemangiomas are rare. We describe a patient who presented at 3 months of age with an enlarging infantile hemangioma on the sclera of the left eye. He had two other hemangiomas on the left eyebrow and chest. Treatment with propranolol resulted in marked improvement of all of his hemangiomas. He did not develop any ocular complications.

Acanthosis Nigricans and Hypochondroplasia in a Child with a K650Q Mutation in FGFR3

Abstract:  Acanthosis nigricans has been described in several autosomal dominant skeletal dysplasia syndromes due to germline FGFR3 mutations, but rarely specifically in patients with hypochondroplasia. We report a child who presented with extensive acanthosis nigricans, short stature, and radiographic evidence of hypochondroplasia. Genetic analysis revealed a heterozygous K650Q mutation in FGFR3.

Temporal Trends in Mucocutaneous Findings Among Human Immunodeficiency Virus 1-Infected Children in a Population-Based Cohort

The objective of the study was to determine the prevalence of pediatric human immunodeficiency virus 1 (HIV‐1) mucocutaneous manifestations in the era of highly active antiretroviral therapy (HAART). We conducted population‐based, prospective, multicenter pediatric HIV‐1 surveillance in 276 children with perinatally acquired HIV‐1 from 1988 to 2009. Centers for Disease Control and Prevention (CDC)‐defined HIV‐1 related mucocutaneous conditions among the 276 children were: category A (n = 152), B (n = 60), and C (n = 1). Nearly half of the category A and B diagnoses (43.4% [66/152] and 35.0% [21/60], respectively) occurred in the first year of life, with 59.2% (90/152) and 61.7% (37/60), respectively, occurring in the first 2 years of life. The most frequent infectious diagnosis was oropharyngeal thrush (n = 117, 42.4%); the most common inflammatory diagnosis was diaper dermatitis (n = 71, 25.7%). There was a temporal decline in the prevalence of A (pre‐HAART cohort, 123; post‐HAART cohort, 29; p < 0.01) and B (pre‐HAART, 55; post‐HAART, 5; p < 0.01) mucocutaneous diagnoses. In children with perinatal HIV‐1, there was a significant decline in CDC category A and B mucocutaneous diagnoses by temporal cohort, consistent with the introduction of antiretroviral medications and HAART. Clinical category A and B mucocutaneous diagnoses were most common in the first 2 years of life, emphasizing the importance of early HIV‐1 testing and HAART initiation.

Acral Angiokeratomas in a Patient with Turner Syndrome

Abstract:  Several types of vascular anomalies have been described in patients with Turner syndrome, including cutaneous lymphatic malformations, vascular anomalies of the heart and aorta, acral venous malformations, and intestinal vascular anomalies. Angiokeratomas have rarely been reported in patients with Turner syndrome. Here, we describe a 14‐year‐old girl with Turner syndrome who presented with a 2‐year history of tender bluish‐black keratotic acral papules. Biopsy showed acral skin with focal epidermal acanthosis that was centered on a dilated superficial vessel, consistent with an angiokeratoma. Lysosomal enzyme assays were normal, and she did not demonstrate any other features of a lysosomal storage disorder.