Visual Impact of Large and Giant Congenital Naevi: Comparison of Surgical Scars with Naevi Before Surgery.

Surgical attempts to remove large/giant congenital melanocytic naevi (LGCMN) are supported mainly by the theoretical improvement in patients' self-image; however such surgery can result in unaesthetic scarring. We hypothesize that difference in appearance itself has an impact, and hence surgery cannot negate this impact. The aim of this cross-sectional study was to explore how LGCMN and scarring are perceived by non-affected people. We surveyed the visual impact on 1,015 health and non-health professionals working in a university hospital. Participants were assigned to 1 of 3 surveys, which, based on photographs of children: (i) assessed the visual impact of LGCMN; (ii) the visual impact of scarring; (iii) compared the impact of LGCMN and scarring. Feelings and perceptions evoked by images of children, either with LGCMN or with scarring, were remarkably similar. However, when the images of the same child (with LGCMN or scarring) were shown together, respondents showed significantly increased preference for scarring.

Long-term Outcomes After Pediatric Free Flap Reconstruction.

INTRODUCTION: Whereas free tissue transfer has evolved to minimize morbidity in adults, less is known about outcomes after free flaps in children. This study sought to assess short- and long-term outcomes after microvascular reconstruction in the pediatric population. METHODS: Short- and long-term outcomes of free tissue transfer were assessed using chart-review and quality-of-life surveys. The Pediatric Outcomes Data Collection Instrument was used to evaluate overall health, pain, and ability to participate in normal daily and more vigorous activities. Patient or parent responses were compared against normative data. RESULTS: Forty-two patients underwent 48 flap reconstructions at a mean age of 8 years. Median follow-up was 14.9 years. Indications included congenital nevi (n = 19, 42%), lymphatic/vascular malformations (n = 8, 19%), and trauma/burns (n = 6, 14%). There were 21 fasciocutaneous (44%), 19 muscle/myocutaneous (40%), 6 fascial/peritoneal (13%), and 2 osteocutaneous flaps (4%). Major flap complications were observed in 4 patients (9%), whereas major donor-site complications occurred in 2% (1 patient). Valid contact information was available for 25 patients; 16 of these completed surveys (64%). Pediatric Outcomes Data Collection Instrument scores for mobility (median, 52), sports/physical functioning (median, 56), happiness (median, 50), and pain/comfort (median, 56) were not significantly different from normative population score of 50. Similarly, median global functioning score was 99 (maximum, 100) and did not differ between flap types. DISCUSSION: Free tissue transfer in the pediatric population is reliable and well-tolerated over time. Surgeons should not hesitate to use free flaps when clinically indicated for pediatric patients.

Novel response to neoadjuvant anti-PD1 therapy for a patient with retrocaval melanotic schwannoma.

Melanotic schwannoma is a rare nerve sheath tumor composed of melanin-producing Schwann cells with the potential for metastasis. These tumors can be associated with familial tumor syndromes and can cause significant symptoms related to nerve compression and mass effect. Due to the rarity of these lesions, they can be initially misidentified as melanocytomas, pigmented dermatofibrosarcoma protuberans, neurofibromas or malignant melanomas. Surgical excision is the mainstay of treatment with limited benefit from adjuvant systemic chemotherapy or radiation. Modern treatments with immune checkpoint blockade have demonstrated significant improvements in progression-free and overall survival for a variety of cancer histologies; however, anti-PD1 therapy has yet to be evaluated in patients with melanotic schwannoma. This report demonstrates a significant improvement in symptomatology and tumor stability with neoadjuvant anti-PD1 therapy for a retrocaval melanotic schwannoma initially masquerading as malignant melanoma. This report demonstrates the potential benefit of a novel therapeutic option for patients with melanotic schwannoma.

Nevospheres from neurocutaneous melanocytosis cells show reduced viability when treated with specific inhibitors of NRAS signaling pathway.

BACKGROUND: Neurocutaneous melanocytosis (NCM) is characterized by clonal nevomelanocytic proliferations in the CNS and skin. Given the scarcity of effective therapeutic targets, testing new drugs requires a reliable and reproducible in vitro cellular model of the disease. METHODS: We generated nevomelanocytic spheroids in vitro from lesions of the spinal cord, brain, and skin from 4 NCM patients. Nevomelanocytic cells were grown as monolayers or spheroids and their growth characteristics were evaluated. Cultured cell identity was confirmed by demonstration of the same NRAS mutation found in the original lesions and by immunophenotyping. Nevomelanocytic spheroids were treated with inhibitors of specific mediators of the NRAS signaling pathway (vemurafenib, MEK162, GDC0941, and GSK2126458). Drug sensitivity and cell viability were assessed. RESULTS: Cultured cells were growth-factor dependent, grew as spheroids on Geltrex matrix, and maintained their clonogenicity in vitro over passages. Skin-derived cells formed more colonies than CNS-derived cells. Inhibitors of specific mediators of the NRAS signaling pathway reduced viability of NRAS mutated cells. The highest effect was obtained with GSK2126458, showing a viability reduction below 50%. CONCLUSIONS: NRAS mutated cells derived from clinical NCM samples are capable of continuous growth as spheroid colonies in vitro and retain their genetic identity. Drugs targeting the NRAS signaling pathway reduce in vitro viability of NCM cells. NCM lesional spheroids represent a new and reliable experimental model of NCM for use in drug testing and mechanistic studies.

Treatment of large and giant nevi.

Excision of large and giant melanocytic nevi presents a distinct challenge to the pediatric plastic surgeon. The exact risk of malignant degeneration remains unknown. These unsightly lesions can be psychologically damaging to both parent and child. The pediatric plastic surgeon must have an armamentarium of techniques for reconstructing the various body areas and must always balance aesthetic and functional outcomes against an unknown but low risk of malignancy.

The importance of conchal resection in correcting the prominent ear.

The authors believe that conchal hypertrophy plays a more significant role in ear prominence than has been indicated in the literature. Instead of focusing on the antihelical fold, this otoplasty technique emphasizes chondrocutaneous resection. With even limited resection and resuturing of the cut concha, the antihelix yields to posterior suture placement with a soft, smooth, rounded shape unmarred by any sharp, irregular surfaces.

BRAF mutations are also associated with neurocutaneous melanocytosis and large/giant congenital melanocytic nevi.

NRAS and BRAF mutations occur in congenital melanocytic nevi (CMN), but results are contradictory. Sixty-six prospectively collected CMN patients were analyzed for NRAS Q61 mutations using Sanger sequencing. Negative cases were evaluated for BRAF V600E mutation. NRAS Q61 mutations affected 51 patients (77.3%), and BRAF V600E was found in 5 (7.6%). NRAS Q61 mutation affected 29 (80.6%) of 36 giant, 16 (80.0%) of 20 large, and 5 (62.5%) of 8 medium-size CMN; BRAF mutation affected 1 (5%) of 20 large and 4 (11.4%) of 36 giant CMN. Compared to NRAS, BRAF-mutated nevi show scattered/extensive dermal and subcutaneous nodules (100% BRAF+ vs 34.8% NRAS+) (P=0.002). Neurocutaneous melanocytosis (NCM) affected 16 (24.2%) of 66 patients, with NRAS Q61 mutation in 12 (75.0%), and BRAF V600E in 2 (12.5%), P=0.009. Two patients were negative for both mutations (12.5%). In conclusion, although NRAS Q61 mutations predominate, BRAF V600E mutation also affects patients with large/giant CMN (L/GCMN), and with NCM, a novel finding. BRAF V600E is also associated with increased dermal/subcutaneous nodules. These findings open the possibility of BRAF-targeted therapy in some L/GCMN and NCM cases.

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.

The expanded transposition flap: shifting paradigms based on experience gained from two decades of pediatric tissue expansion.

The authors present their experience with the design of expanded skin flaps gained over the past two decades in a large series of 995 expanded flap reconstructions performed in 626 operations in 430 patients. The indications for tissue expansion were giant congenital pigmented nevi (72.7 percent), scar contractures (11.2 percent), and a remainder for a variety of congenital and acquired deformities. Surgical strategies were reviewed retrospectively to determine the location in the body where the tissue expansion was performed, the number of procedures required to accomplish the reconstructive goal, and the design of the expanded flap that was used to reconstruct the involved area. Specific points that were noticed included contour deformities (such as webbing, dog-ears, or decreased limb circumference) following flap reconstruction, anatomic distortions (such as distortion of the eyebrow or the distance from the brow to hairline) following reconstruction, final position of the scars in relation to anatomic landmarks, borders of aesthetic units, and relaxed skin tension lines, and the potential for later scar contracture. Careful examination of reconstruction by region of involvement demonstrated significant advantages in the use of expanded transposition flaps over pure advancement. These advantages and the modifications in the design of expanded flaps for each body region are discussed in a series of representative cases. They emphasize the ability of transposition flaps to dissipate tension away from the flap apex and distribute it more proximally, thus redirecting the tension lines so there is less likelihood of anatomic distortion in the reconstructed area. Also, flaps designed in this manner allow improved contour by avoiding webbing, tenting across concavities, and bunching of skin laterally. The authors conclude that restricting the expanded flap design to advancement alone to minimize potential scarring severely limits the reconstructive capabilities of the added tissue and distracts from the surgeon's ability to accomplish the initial reconstructive goal. The cost of additional incisions is worthwhile to achieve better final contour of the reconstructed part, lesser risk of anatomic distortion, better position of the scars, and lowered risk of scar contracture.

Surgical management of the cutaneous manifestations of linear nevus sebaceus syndrome.

Linear nevus sebaceus syndrome is characterized by the association of nevus sebaceus covering extensive areas on the head and scalp with abnormalities of the central nervous system, ophthalmologic and skeletal changes, and malignancies. The incidence is approximately one per 10,000 live births, and there is no sexual predilection reported. The original description of this syndrome was followed by extensive literature describing the dermatologic, neurologic, and ophthalmologic manifestations of this disease. The objective of this report is to describe the surgical approach for the excision and reconstruction of giant sebaceous nevi of the face and scalp in children with linear nevus sebaceus syndrome on the basis of a consecutive series of five patients treated over 10 years in the same institution. To the authors' knowledge, this report represents the largest surgical series and suggests a reliable approach to the treatment of the cutaneous manifestations of this syndrome.

Ear reconstruction after auricular chondritis secondary to ear piercing.

The recent fad of high ear piercing in the pinna has led to an increased incidence of auricular chondritis, which leads to dissolution of the cartilage and residual ear deformity. The typical postpiercing chondritis deformity presents as a structural collapse of the superior helical rim, scaphal cartilage, and the adjacent antihelix. The skin envelope is usually preserved, but it may be scarred from the infectious process and from previous drainage incisions. In the present article, the authors present a systematic approach to reconstruction of these acquired ear deformities. Careful assessment of the residual tissue is requisite to planning and appropriate reconstruction. The greater the cartilage loss, the more structural support is required to expand the skin envelope to its normal size and shape. The choice of cartilage donor site is made on the basis of the size of the defect and may include ipsilateral or contralateral conchal cartilage, bilateral conchal cartilage, or costal cartilage. Redraping of the carefully dissected skin and fixation of the flaps to the newly reconstructed cartilaginous framework usually provide sufficient soft-tissue coverage. A temporal-parietal fascial flap is preserved for the rare cases of extensive full-thickness skin loss or badly damaged and scarred auricular skin.

Combined otoplasty technique: chondrocutaneous conchal resection as the cornerstone to correction of the prominent ear.

The failure to correctly analyze the complex deformity that comprises the prominent ear is the most common cause of the undesired surgical result. Recognizing conchal hypertrophy as one of the leading causes of the prominent ear deformity has led to a versatile and reproducible otoplasty technique that is easily modified to the common side-to-side variation in deformity. From January of 1993 to August of 2000, chondrocutaneous conchal resection has been used as the cornerstone to a combined sequence of maneuvers in otoplasty. The operation was performed on 47 patients (40 bilateral cases and 7 unilateral), and the total number of ears operated on was 87. There were three complications requiring revision surgery, and follow-up periods ranged from 6 months to 7 years, with all patients achieving a satisfactory result. Detailed methods of chondrocutaneous conchal resection along with the sequence of the authors' combined otoplasty techniques are presented.

Skin of patients with large/giant congenital melanocytic nevi shows increased mast cells.

Nevocytes (NC) and mastocytes (MC) have different progenitors but share stem cell factor as regulator/activator of NC and for differentiation/proliferation of MC. Both cell types express stem cell factor receptor CD117. We hypothesize that large/giant congenital melanocytic nevi (L/GCMN) may associate with MC hyperplasia. Forty-nine L/GCMN were examined, 12 samples from uninvolved skin of L/GCMN patients and 6 control skin samples studied with Giemsa and immunohistochemistry for CD117 and MC-tryptase. Picrosirius red (PR) was used to assess fibrosis. Digital images were used to count MC/mm(2) using ImageJ software. Western blot (WB) for MC-tryptase in 12 GCMN and 12 non-nevus samples was performed. Analysis of variance (Tukey) and Pearson statistical tests were applied. Increased MCs were observed in nevus tissue (75.1 ± 35.3 MCs/mm(2)) and in uninvolved skin (53.74 ± 27.7 MC/ mm(2)). P  =  0.109 from patients with L/GCMN, compared with controls from individuals without L/GCMN (28.74 ± 8.4 MC/mm(2)); P  =  0.001 supported by results of WB analysis for tryptase. A positive trend toward correlation of MC numbers with fibrosis, assessed by PR staining fell short of statistical significance (r  =  0.245; P  =  0.086); no difference in fibrosis was found between nevus and non-nevus skin from patients with L/GCMN (P  =  0.136). We found a higher density of MC, both in normal-appearing skin and nevus areas of L/GCMN patients, compared with control skin samples from individuals without nevi. Given the abnormal wound healing and allergic reactions described in L/GCMN patients, these findings suggest a potential role for MC in the biology of L/GCMN, making them a potential target for therapeutic intervention.

Understanding the unfavorable result after otoplasty: an integrated approach to correction.

The correction of an unfavorable outcome after otoplasty requires a thorough understanding of the anatomy of prominent ear and recognition of the spectrum of secondary deformities and their origin. The goal of this article is to describe the causes of postotoplasty deformity, including both undercorrection and overcorrection. The latter presents the more complicated reconstructive problem, as both skin shortage and permanent cartilage disruption need to be addressed. The authors propose an algorithm for revision otoplasty based on clinical findings and patient concerns. Finally, a case with overcorrection secondary to both skin deficiency and cartilage disruption is illustrated showing the sequential steps needed for optimal correction.

Reconstruction of microtia.

SUMMARY: The reconstruction of microtia continues to represent one of the more challenging plastic surgery procedures. The limitations of the reconstruction are partly inherent in the soft-tissue deficiencies present in increasing degrees from large conchal remnant microtia, to lobular microtia, to the displaced remnant in auricular dystopia, and partly because of the high level of technical expertise required. After a brief review of the history of ear reconstruction in general and microtia specifically, issues related to the transition in the popularity from techniques involving three or more stages (Tanzer and Brent) to the current popularity of two-stage procedures (Nagata, Firmin, and Park) are discussed in detail. Each of the popular procedures is viewed in relation to timing of the reconstruction, procedure planning, and how both the soft tissues and framework construction are handled, in each of the stages. The most significant differences include whether the autogenous cartilage framework is constructed with or without the tragal construct (for the lobular-type microtia), whether or not the lobule is rotated in the first-stage reconstruction, whether an additional cartilage block is placed behind the framework for added ear projection, and how that added block is covered (choice of fascia flap and skin graft). Each of the techniques has to be varied in reconstruction of auricular dystopia in light of the associated skeletal and soft-tissue hypoplasia. In this article, the author demonstrates that although there may be significant advantages to the two-stage reconstructions of Nagata and Firmin, some may feel that the larger amount of cartilage harvested, the later optimal age for beginning the reconstruction, the additional scalp scars engendered by using the temporoparietal fascia flap in the second-stage elevation of the framework, and even the exchange of lobule tissue (and ability to later pierce ears) to obtain better coverage of the concha and tragus are unacceptable. Having gained experience with each of the varied approaches and having modified them when unusual variations in deformities have required it, the author discusses his current preferences. Clearly, this author feels that there may be significant advantages to delaying the reconstruction to age 10 years or older, yet experience gained over the past 25 years would seem to indicate that as in all other aspects of plastic and reconstructive surgery one must never be wed to a single approach, and experience and flexibility are essential in obtaining the optimal outcome in all variations of the deformity.

Congenital melanocytic nevi of the eyelids and periorbital region.

BACKGROUND: Congenital melanocytic nevi of the eyelids and periorbital region are unusual. Although their malignant potential can be debated, they present a significant aesthetic concern and also disturb lid function. In this article, the authors present an expanded approach to evaluation and treatment of these patients. METHODS: Forty-four consecutive patients, aged 6 months to 18 years, were treated from 1980 to 2008. All patients had congenital nevi involving one or both eyelids, with or without extension into the surrounding periorbital area and face. Follow-up ranged from 6 months to 20 years. RESULTS: All patients were treated successfully with excision and reconstruction of their congenital eyelid and/or periorbital nevi. The involved ciliary border was preserved in all but one case, where the exophytic lesion presented function concerns. Complications included asymptomatic lateral ectropion in three patients. Asymmetry of the palpebral apertures, before treatment, was present in at least half of the patients with extensive facial nevi, and the abnormalities causing these differences may impact efforts to obtain final lid symmetry. A single patient died as a result of extensive metastatic melanoma from an extracutaneous site. CONCLUSIONS: Early evaluation and treatment of these nevi may help in preventing the aesthetic, functional, and health-related issues for the patients. Although the current group of infants and young children will not reach full facial growth for more than another decade and a half, and therefore await critical assessment of their long-term outcomes, the authors hope that the experience gained to date will assist surgeons in managing these complex reconstructions.

Congenital pigmented nevi of the auricle: clinical experience and approach to treatment.

BACKGROUND: Congenital pigmented nevi of the auricle are uncommon. The authors' approach is to excise these nevi and perform reconstruction because of the risk of malignant transformation and the aesthetic and psychological effects these nevi can have on the child. This study presents the authors' experience in treating congenital nevi of the ear and suggests treatment principles and guidelines for the reconstructive surgeon. METHODS: Fourteen patients with congenital nevus of the ear were treated from October of 1992 to September of 2008 by the senior surgeon (B.S.B.). Nevi involving the more stable areas such as the concha can be resected and grafted early; the antihelix, scapha, and triangular fossa area can be resected and grafted next; and the helical rim, having the most easily distorted cartilage, should be treated last. Lobule reconstruction requires combined flaps and a dermal fat graft or a postauricular fascial fat flap. RESULTS: Successful reconstruction was achieved in 10 patients. Three patients require final revision procedures (lobule reconstruction). One patient, early in our series, developed a deformed helical rim resulting from skin grafting at age 16 months, before the cartilage was firm enough to withstand the contraction forces of the skin graft. All subsequent patients with helical rim involvement had treatment delayed until the ear was at or near completion of its growth. CONCLUSIONS: Congenital nevi of the ear present a challenging reconstruction surgeon. The authors developed a treatment plan that breaks the ear down to aesthetic units and considers the location of the nevus, patient age, and the firmness of the cartilage.