That's Not Molluscum! A literature review of 109 cases of subepidermal calcified nodules.

Subepidermal calcified nodule (SCN) is a rare presentation of idiopathic calcinosis cutis. A literature review was conducted, with 109 cases reported in 268 articles. We report the demographic data, SCN clinical and histological characteristics, common differential diagnoses, and treatments performed from this analysis.

De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype.

The ASXL genes (ASXL1, ASXL2, and ASXL3) participate in body patterning during embryogenesis and encode proteins involved in epigenetic regulation and assembly of transcription factors to specific genomic loci. Germline de novo truncating variants in ASXL1 and ASXL3 have been respectively implicated in causing Bohring-Opitz and Bainbridge-Ropers syndromes, which result in overlapping features of severe intellectual disability and dysmorphic features. ASXL2 has not yet been associated with a human Mendelian disorder. In this study, we performed whole-exome sequencing in six unrelated probands with developmental delay, macrocephaly, and dysmorphic features. All six had de novo truncating variants in ASXL2. A careful review enabled the recognition of a specific phenotype consisting of macrocephaly, prominent eyes, arched eyebrows, hypertelorism, a glabellar nevus flammeus, neonatal feeding difficulties, hypotonia, and developmental disabilities. Although overlapping features with Bohring-Opitz and Bainbridge-Ropers syndromes exist, features that distinguish the ASXL2-associated condition from ASXL1- and ASXL3-related disorders are macrocephaly, absence of growth retardation, and more variability in the degree of intellectual disabilities. We were also able to demonstrate with mRNA studies that these variants are likely to exert a dominant-negative effect, given that both alleles are expressed in blood and the mutated ASXL2 transcripts escape nonsense-mediated decay. In conclusion, de novo truncating variants in ASXL2 underlie a neurodevelopmental syndrome with a clinically recognizable phenotype. This report expands the germline disorders that are linked to the ASXL genes.

Late growth of infantile hemangiomas in children >3 years of age: A retrospective study.

BACKGROUND: The proliferative phase of infantile hemangiomas (IHs) is usually complete by 9 months of life. Late growth beyond age 3 years is rarely reported. OBJECTIVE: To describe the demographic and clinic characteristics of a cohort of patients with late growth of IH, defined as growth in a patient >3 years of age. METHODS: A multicenter, retrospective cohort study. RESULTS: In total, 59 patients, 85% of which were female, met the inclusion criteria. The mean first episode of late growth was 4.3 (range 3-8.5) years. Head and neck location (55/59; 93%) and presence of deep hemangioma (52/59; 88%) were common characteristics. Posterior fossa malformations, hemangiomas, arterial anomalies, cardiac defects, eye abnormalities (PHACE) syndrome was noted in 20 of 38 (53%) children with segmental facial IH. Systemic therapy (corticosteroid or ß-blocker) was given during infancy in 58 of 59 (98%) and 24 of 59 (41%) received systemic therapy (ß-blockers) for late IH growth. LIMITATIONS: The retrospective nature and ascertainment by investigator recall are limitations of the study. CONCLUSION: Late IH growth can occur in children after 3 years of age. Risk factors include head and neck location, segmental morphology, and involvement of deep dermal/subcutaneous tissues.

Subungual leiomyoma in the left thumb of a 16-year-old female.

Cutaneous leiomyomata, which are benign smooth muscle neoplasms, commonly present as dermal-based nodules or papules with smooth borders and firm consistency. Digital, particularly subungual leiomyomata are quite rare. A 16-year-old female presented to nail clinic complaining of discoloration of the lunula of the left thumbnail for 2.5 months. On initial examination, a pink longitudinal band was present in the center of the nail plate, with yellow discoloration and distal onycholysis. The patient had only mild tenderness with firm palpation, and did not recall trauma of the area. A nail matrix biopsy was performed to determine the etiology of the lesion. Microscopic examination demonstrated a well-demarcated dermal-based spindle-cell fascicular proliferation. Bland cells exhibited eosinophilic cytoplasm and elongate nuclei with blunt ends and minimal cytologic atypia. Prominent nucleoli, mitoses or necrosis were not appreciated. Immunohistochemical stains for smooth muscle actin and caldesmon highlighted the cells. Contrarily, S-100, epithelial membrane antigen, p63, factor XIIIa, CD34, CD68 and p75 were all negative. Ki-67 showed a low proliferative index. The immunoprofile combined with the morphologic features were interpreted as subungual leiomyoma. Subungual leiomyoma is a very rare diagnosis. We seek to bring awareness and expedite the diagnosis in patients with this lesion.

Tinea capitis mimicking dissecting cellulitis.

Tinea capitis is a common disease of childhood that typically follows one of several clinical patterns. Our patient and several previously reported cases demonstrate the existence of a dissecting cellulitis-like presentation of tinea capitis. This variant should be recognized to prevent misdiagnosis of dissecting cellulitis and allow proper treatment to prevent scarring alopecia.

Adult and Pediatric Nail Unit Melanoma: Epidemiology, Diagnosis, and Treatment.

Nail unit melanoma (NUM) is an uncommon form of melanoma and is often diagnosed at later stages. Approximately two-thirds of NUMs are present clinically as longitudinal melanonychia, but longitudinal melanonychia has a broad differential diagnosis. Clinical examination and dermoscopy are valuable for identifying nail findings concerning malignancy, but a biopsy with histopathology is necessary to confirm a diagnosis of NUM. Surgical treatment options for NUM include en bloc excision, digit amputation, and Mohs micrographic surgery. Newer treatments for advanced NUM include targeted and immune systemic therapies. NUM in pediatric patients is extremely rare and diagnosis is challenging since both qualitative and quantitative parameters have only been studied in adults. There is currently no consensus on management in children; for less concerning melanonychia, some physicians recommend close follow-up. However, some dermatologists argue that the "wait and see" approach can cause delayed diagnosis. This article serves to enhance the familiarity of NUM by highlighting its etiology, clinical presentations, diagnosis, and treatment options in both adults and children.

Treatment of hypergranulation tissue with high potency topical corticosteroids in children.

Hypergranulation is having more granulation tissue than needed to fill a wound defect. Some pediatric dermatologists and most dermatologic surgeons will encounter this complication during their careers. Associated factors include wound site, prolonged inflammation, an imbalance in matrix metalloproteinases, and excessive angiogenesis. Reported treatments have included silver nitrate, excision, laser ablation, and topical corticosteroids. Our case series supports the use of medium- to high-potency topical corticosteroids in the treatment of hypergranulation tissue.

Familial eruptive vellus hair cysts.

Eruptive vellus hairs cysts are benign papules consisting of small cysts containing multiple vellus hairs. An eruption commonly develops on the chest and sometimes the upper extremities. These papules are asymptomatic or rarely pruritic. Only a few cases of familial association have been described. We report the development of eruptive vellus hair cysts on the trunk of an 8- and 12-year-old sister and brother.

Quality and Perceived Usefulness of Patient-Submitted Store-and-Forward Teledermatology Images.

Importance: Patient-submitted images vary considerably in quality and usefulness. Studies that characterize patient-submitted images in a real-life setting are lacking. Objective: To evaluate the quality and perceived usefulness of patient-submitted images as determined by dermatologists and characterize agreement of their responses. Design, Setting, and Participants: This survey study included patient images submitted to the Department of Dermatology at Duke University (Durham, North Carolina) between August 1, 2018, and December 31, 2019. From a total pool of 1200 images, 10 dermatologists evaluated 200 or 400 images each, with every image being evaluated by 3 dermatologists. Data analysis occurred during the year leading up to the article being written. Main Outcomes and Measures: The primary outcomes were the responses to 2 questions and were analyzed using frequency counts and interrater agreement (Fleiss κ) to assess image quality and perceived usefulness. We performed a random-effects logistic regression model to investigate factors associated with evaluators' decision-making comfort. We hypothesized that most images would be of low quality and perceived usefulness, and that interrater agreement would be poor. Results: A total of 259 of 2915 patient-submitted images (8.9%) did not depict a skin condition at all. The final analysis comprised 3600 unique image evaluations. Dermatologist evaluators indicated that 1985 images (55.1%) were useful for medical decision-making and 2239 (62.2%) were of sufficient quality. Interrater agreement for a given image's diagnostic categorization was fair to substantial (κ range, 0.36-0.64), while agreement on image quality (κ range, 0.35-0.47) and perceived usefulness (κ range, 0.29-0.38) were fair to moderate. Senior faculty had higher odds of feeling comfortable with medical decision-making than junior faculty (odds ratio [OR], 3.68; 95% CI, 2.9-4.66; P < .001) and residents (OR, 5.55; 95% CI, 4.38-7.04; P < .001). Images depicting wounds (OR, 1.75; 95% CI, 1.18-2.58; P = .01) compared with inflammatory skin conditions and that were in focus (OR, 5.56; 95% CI, 4.63-6.67; P < .001) had higher odds of being considered useful for decision-making. Conclusions and Relevance: In this survey study including 10 dermatologists, a slight majority of patient-submitted images were judged to be of adequate quality and perceived usefulness. Fair agreement between dermatologists was found regarding image quality and perceived usefulness, suggesting that store-and-forward teledermatology initiatives should consider a physician's individual experiences and comfort level. The study results suggest that images are most likely to be useful when they are in focus and reviewed by experienced attending physicians for wound surveillance, but dermatologists may be burdened by irrelevant or unsuitable images.

Periocular infantile hemangioma masquerading as dacryocele.

A 2-month-old boy developed a protuberant, blue nodule inferomedial to the left medial canthus. It was unresponsive to oral and intramuscular antibiotics. After developing difficulty breathing, he was admitted, with the diagnosis of a dacryocele, and, after an inconclusive ultrasound, underwent probing and irrigation with nasal endoscopy. Intraoperatively, the lesion appeared discontinuous with the nasolacrimal system and could not be decompressed. Postoperative magnetic resonance imaging suggested a hemangioma or possible collapsed dacryocele. Doppler ultrasound confirmed a perinasolacrimal duct hemangioma. Systemic propranolol treatment was initiated.

Intertriginous pustular psoriasis.

We describe 6 patients who presented during infancy with erythematous papules or pustules localized to the neck and sometimes other intertriginous areas as well. Most of these infants were initially thought to have dermatitis or a bacterial or candidal infection. A biopsy specimen established the diagnosis of pustular psoriasis in 5 of the 6 cases. In 4 cases, the psoriasis became more widespread during the months to years after diagnosis. Treatment included topical therapy in all cases and systemic therapy in 3 cases. Two cases have remained particularly recalcitrant. Pustular psoriasis must be considered in the differential diagnosis of an intertriginous papulopustular eruption in an infant. Pustular psoriasis presenting in the intertriginous areas, and particularly the neck, seems specific to infants and may portend progressive extension to widespread involvement. A limitation is that this was a retrospective case series.

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.

Keratosis follicularis spinulosa decalvans in a family.

Keratosis follicularis spinulosa decalvans (KFSD) is a rare condition characterized by diffuse keratosis pilaris with a scarring alopecia of the scalp and associated photophobia, facial erythema, and palmoplantar keratoderma. Although initially described as a sex-linked disorder, several different inheritance patterns have been observed. We describe a patient whose father and sister were also affected with this condition, consistent with an autosomal dominant genetic transmission. Multiple topical and systemic treatments have been unsuccessful in this patient, attesting to the treatment refractoriness typically seen in KFSD.

A patient with extensive stem cell factor-induced hyperpigmentation.

Stem cell factor (SCF) is a cytokine that stimulates development of erythroid precursors and, consequently, may have potential importance in the treatment of certain anemias. We report a case of a young woman with Diamond-Blackfan anemia who received SCF treatment. One effect of SCF treatment is cutaneous hyperpigmentation at the injection site. In contrast to previously reported cases of patients who had fewer SCF injections, her hyperpigmentation was extensive and of major cosmetic concern. SCF may play a role in a number of disease processes. This case demonstrates the need to consider the potential pigmentary side effects of SCF therapy and to make careful selection of the injection sites.