Bullous Dermolysis of the Newborn: Four New Cases and Clinical Review

Bullous dermolysis of the newborn ( BDN ) is a subtype of dystrophic epidermolysis bullosa caused by mutations in type VII collagen resulting in disorganized anchoring fibrils and sublamina densa blister formation. Disease activity is usually confined to the first year of life, with restoration of physiologic type VII collagen localization. We report four new cases of BDN and review the utility of immunofluorescence mapping in establishing the diagnosis.Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/101784/1/pde12230.pd

An Adolescent Boy with Persistent Penile and Scrotal Erythema and Swelling

Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/94261/1/pde1705.pd

Congenital Midline Nodules on the Chin and Sternum

History: A 5-day old black male full-term neonate born via vacuum-assisted delivery for non-reassuring fetal heart rate presented with congenital presentation of two asymptomatic midline lesions which appeared asymptomatic. There was no history of seizures, ophthalmologic findings, abnormalities in head circumference, height, weight or limb size. Newborn screening examination was unremarkable. Examination: On the midline submental chin there was a soft, brown dome-shaped plaque measuring 0.8-centimeters with a circumferential ring of light brown pigmentation; on the midline upper chest there was a light brown 2-millimeter dome-shaped papule. Course and Therapy: Ultrasound of the submental chin lesion revealed a 0.5 x 0.8 x 0.4-centimeter heterogeneously hypoechoic structure with a peripheral soft tissue rind. Punch biopsies of the submental chin and the midline upper chest revealed haphazardly arranged striated muscle fibers in the dermis, some of which inserted directly into the epidermis. The muscle fibers were highlighted by Masson’s trichrome and myogenin. Alcian blue revealed increased dermal mucin. Discussion: Striated muscle hamartomas (SMH) are rare, benign congenital skin tumors characterized by haphazard arrangement of mature striated skeletal muscle, collagen, nerve bundles, and adipose tissue in the dermal and subcutaneous tissue. Although a rare entity, it is important to recognize this benign hamartoma as a congenital midline defect. Conservative management with clinical monitoring is recommended if cosmetically acceptable, as spontaneous regression over a period of years has been reported. Surgical excision may be pursued; however, the hamartoma may recur.https://scholarlycommons.henryford.com/merf2020caserpt/1133/thumbnail.jp

26856 Proliferative nodule resembling angiomatoid Spitz with pronounced degenerative atypia arising within a giant congenital nevus

Proliferative nodules arising within congenital melanocytic nevi present a diagnostic challenge for dematopathologists given their close resemblance to melanoma. In difficult cases, ancillary molecular tests can be used to better exclude the possibility of malignancy. We report case of a biopsy and subsequent excision of an unusual proliferative nodule with overlapping features of angiomatoid Spitz tumor and ancient melanocytic nevus which demonstrated normal findings on both chromosomal microarray and a gene expression profiling assay. Our case is noteworthy given its striking resemblance to what has been reported for an angiomatoid Spitz tumor. To our knowledge, this particular morphologic subset of Spitz has been described primarily in the context of spontaneous melanocytic tumors arising de novo outside the context of a congenital lesion. The pathology showed bizarre cytological features along with a myxoid and highly vascularized stroma which is thought to represent degenerative atypia characteristic of an “ancient nevus.” The lesions described as ancient nevi have some overlapping stromal features with angiomatoid Spitz tumors. A low proliferation index and paucity of mitotic figures is characteristic of these neoplasms. We hypothesize that continued host response to the lesion may be responsible for inducing the observed cytological and stromal derangement. Interestingly, these changes increased from the time of biopsy to the excision. Future studies should aim to define the genetic and immunologic signature of these lesions to help predict prognosis. The relationship between angiomatoid Spitz tumor, ancient change, and regressing nevi should also be investigated

A pediatric case of pigmented epithelioid melanocytoma with chromosomal copy number alterations in 15q and 17q and a novel NTRK3‐SCAPER gene fusion

Pigmented epithelioid melanocytoma (PEM) represents a group of rare, heavily pigmented melanocytic tumors encompassing lesions previously designated as “animal‐type melanomas” and “epithelioid blue nevi.” Despite the association of multiple such tumors in the setting of Carney complex, most cases of PEM occur spontaneously as solitary neoplasms in otherwise healthy patients. PEM may arise in both children and adults, and has a known propensity to spread to the regional lymph nodes. Despite this latter finding, recurrence at the biopsy site or spread beyond the lymph node basin is exceptionally uncommon. Although the molecular basis for PEM continues to be characterized, findings to date suggest that this category of melanocytic neoplasia has genetic alterations distinct from those seen in common nevi, dysplastic nevi, Spitz nevi, and melanoma. Herein, we present an in‐depth clinical, histopathologic, and molecular analysis of a case of PEM occurring on the scalp of a young African American girl found to have a novel NTRK3‐SCAPER gene fusion.Peer Reviewedhttps://deepblue.lib.umich.edu/bitstream/2027.42/152480/1/cup13566.pdfhttps://deepblue.lib.umich.edu/bitstream/2027.42/152480/2/cup13566_am.pd

A pediatric case of pigmented epithelioid melanocytoma with chromosomal copy number alterations in 15q and 17q and a novel NTRK3‐SCAPER gene fusion

Pigmented epithelioid melanocytoma (PEM) represents a group of rare, heavily pigmented melanocytic tumors encompassing lesions previously designated as “animal‐type melanomas” and “epithelioid blue nevi.” Despite the association of multiple such tumors in the setting of Carney complex, most cases of PEM occur spontaneously as solitary neoplasms in otherwise healthy patients. PEM may arise in both children and adults, and has a known propensity to spread to the regional lymph nodes. Despite this latter finding, recurrence at the biopsy site or spread beyond the lymph node basin is exceptionally uncommon. Although the molecular basis for PEM continues to be characterized, findings to date suggest that this category of melanocytic neoplasia has genetic alterations distinct from those seen in common nevi, dysplastic nevi, Spitz nevi, and melanoma. Herein, we present an in‐depth clinical, histopathologic, and molecular analysis of a case of PEM occurring on the scalp of a young African American girl found to have a novel NTRK3‐SCAPER gene fusion.Peer Reviewedhttps://deepblue.lib.umich.edu/bitstream/2027.42/152480/1/cup13566.pdfhttps://deepblue.lib.umich.edu/bitstream/2027.42/152480/2/cup13566_am.pd

Perioral dermatitis: a review of the condition with special attention to treatment options

Perioral dermatitis is a common acneiform facial eruption found in both adults and children. Its variants are periorificial and granulomatous periorificial dermatitis. The etiology of perioral dermatitis remains unknown; however, topical corticosteroid use on the face commonly precedes the manifestation of this condition. There are an overwhelming number of treatment options for perioral dermatitis, and the options in children are slightly different from those in adults for both systemic medications and topical treatment. This article provides a literature review of the various applicable treatments available based on the level and quality of the evidence by the US Preventive Service Task Force. Oral tetracycline reveals the best valid evidence. However, if the patient is less than 8 years old, then this oral therapy may not be suitable. Topical metronidazole, erythromycin, and pimecrolimus also represent effective treatment choices with good evidence. Topical corticosteroid use is common in these cases and the question of whether it is a good treatment or a cause remains unanswered. Corticosteroid cream can improve the clinical picture, but there is a risk of rebound when treatment is stopped. We propose a treatment algorithm to assist dermatologists, pediatric dermatologists, and general practitioners encountering this condition