Giant congenital fibroblastic connective tissue nevus associated with vascular anomalies.

We described an unusual combination of fibroblastic connective nevus (FCTN) already present at birth with underlying vascular anomalies. Overall, the lesion appeared as a large purplish-brown mass in the groin region up to the third of the right thigh, with partial spontaneous regression during the first three months of life. The FCTN observed exhibited several unusual characteristics: it was congenital, large in size, and located in the lower limbs. Finally, it represented the first case described in which an FCTN arose in association with vascular anomalies.

Case report: Later onset of NRAS-mutant metastatic melanoma in a patient with a partially-excised giant congenital melanocytic nevus.

Despite recent advances in treatment and surveillance, metastatic melanoma still carries a poor prognosis. Large/giant congenital melanocytic nevi (CMNs) constitute a known risk factor for the condition, with the greatest risk for malignant transformation thought to be during childhood (median age at diagnosis of 3 years in a previous cohort). Herein, we present the case of a 30-year-old male who, after undergoing multiple excision/grafting procedures for a giant CMN as a child, was diagnosed with an NRAS-mutant, MDM2-amplified metastatic melanoma more than 20 years later. Response to ipilimumab/nivolumab immunotherapy, cisplatin/vinblastine/temozolomide chemotherapy, and nivolumab/relatlimab immunotherapy was poor. This case highlights the importance of lifetime monitoring with once-yearly dermatological examination (including lymph node palpation) in large/giant CMN patients, as well as the need for further clinical trials evaluating novel therapies for NRAS-mutant melanoma.

Short stature and melanocytic nevi in a girl with ARID1B-related Coffin-Siris syndrome: a case report.

BACKGROUND: Coffin-Siris syndrome (CSS) is a rare autosomal dominant disorder characterized by intellectual disability, developmental delay, and characteristic facial features. Few patients with cutaneous phenotype in this rare syndrome have been reported. CASE PRESENTATION: Herein, we describe a 12-year-old Chinese girl diagnosed with CSS, who was referred to our hospital because of intellectual disability and short stature. Prominent characteristics of the cutaneous system were observed: (1) A congenital giant nevus from the left frontal and temporal regions to the entire left scalp; and (2) multiple melanocytic nevi on the face and trunk. Whole exome sequencing revealed a novel heterozygous variant in the ARID1B gene. Recombinant human growth hormone (rhGH) was given for short stature, and resulted in significantly improved height. No enlargement or malignant transformation of nevi occurred within 4 years of follow-up. CONCLUSION: The symptoms in cutaneous system is noteworthy,which may be a neglected phenotype in CSS.The therapeutic response of growth hormone is effective in this patient and no tumor related signs were found.

Neurocutaneous Melanosis in an Adult Patient with Intracranial Primary Malignant Melanoma: Case Report and Review of the Literature.

BACKGROUND: To explore the clinical characteristics of neurocutaneous melanosis (NCM) in adult patients to help improve diagnosis and treatment of this disease, we present a rare case of an adult patient suffering from NCM with malignant melanoma, as well as a review of the relevant Chinese and English literature. CASE DESCRIPTION: The patient reported here plus the patients identified in our literature review total 30 adults with NCM (20 males [66.7%] and 10 females [33.3%]), age 19-65 years (average, 27.9 years). These include 24 cases of malignant melanoma (80.0%), 3 cases of melanocytoma (10.0%), 2 cases of diffuse melanocytosis (6.7%), and 1 case of unknown pathology (3.3%). Satellite nevi were reported in 25 cases (83.3%) and in 5 cases their presence was unknown (16.7%). Intracranial lesions were present in 28 cases (93.3%), and intraspinal lesions were present in 2 cases (6.7%). There are 4 cases of combined hydrocephalus (13.3%), and 2 cases of combined Dandy-Walker deformity (6.7%). CONCLUSIONS: NCM is a rare disease, especially in adults. With the onset of symptoms, the diagnosis is generally confirmed. In children with congenital giant nevus, regular periodic surveys of the central nervous system (brain and spinal cord) with magnetic resonance imaging or cerebrospinal fluid analysis should be performed to diagnose NCM. Active treatment should be undertaken to improve the prognosis.

Treating Giant Congenital Nevus With Integra Dermal Regeneration Template in a 9-Year-Old Girl.

Integra dermal regeneration template has been well established in treating deep extensive burns, but there are very few cases reported of treating large full-thickness skin defects such as giant nevi. Apart from psychological and cosmetic burdens, the giant congenital nevus carries increased risk of malignant alteration. We present the case of a 9-year-old girl with a giant congenital nevus on her left lower leg. A total excision was done and she was successfully treated with Integra (LifeSciences Corp, Plainsboro, NJ). Three weeks later, a thin split-skin graft was applied over the neodermal skin layer. The takeoff was 91%. Protected with the silver wound dressing, the rest of the wound healed. A donor site morbidity was minimal, and the final result was excellent both in aesthetic and functional aspects.

Patterns of distribution of giant congenital melanocytic nevi (GCMN): The 6B rule.

BACKGROUND: Garment-related terms have been used to describe the pattern of distribution of giant congenital melanocytic nevi (GCMN). OBJECTIVE: We sought to describe patterns of distribution of GCMN and propose a classification scheme. METHODS: Photographic records of patients with GCMN from the Hospital Clinic of Barcelona were analyzed and a classification based on observed GCMN distribution patterns was created. The classification was independently applied by 8 observers to cases found in the literature. The interobserver agreement was assessed. RESULTS: Among 22 patients we observed 6 repeatable patterns of distribution of GCMN, which we termed the "6B": bolero (involving the upper aspect of the back, including the neck), back (on the back, without involvement of the buttocks or shoulders), bathing trunk (involving the genital region and buttocks), breast/belly (isolated to the chest or abdomen without involvement of bolero or bathing trunk distributions), body extremity (isolated to extremity), and body (both bolero and bathing trunk involvement). Our literature search found 113 cases of GCMN, which we were able to classify into 1 of the 6B patterns with an overall kappa of 0.89. LIMITATIONS: Some patterns occur infrequently with a dearth of images available for analysis. CONCLUSIONS: The anatomic distribution of GCMN occurs in 6 recognizable and repeatable patterns.

[Application of amniotic membrane-living skin equivalent in repairing skin defect after removal of congenital giant nevus].

Objective: To investigate the feasibility of human amniotic membrane-living skin equivalent (AM-LSE) in repairing the skin defect. Methods: A 5-year-old boy with giant nevus at neck, shoulder, and back was admitted in July 2016. Normal skin tissue of the patient was harvested and keratinocytes and dermal fibroblasts were separated and expanded in vitro. Human AM was donated from a normal delivery and de-epithelialized for constructing an LSE as a matrix. Keratinocytes were seeded on the epithelial side of the AM which was previously seeded with fibroblasts on the stromal side and then the complex was lifted for air-liquid surface cultivation for 10 days and observed under naked eyes and sampled for histological study. The nevus was excised to deep fascia and the skin defect in size of 20 cm×15 cm was covered with artificial skin of collagen sponge for 2 weeks to enhance granulation tissue formation, and then the AM-LSE grafts of stamp size were grafted on. The dressing was changed until the wound healed. Results: After 10 days of air-liquid surface cultivation, the AM-LSE developed a multilayered and differentiated epidermis with the fibroblasts-populated amnion as the dermal matrix. The LSE stamps survived and expanded to cover the whole wound. The grafted area showed normal skin color and soft contexture at 6 months after operation, and histological study showed well developed epidermis with compactly aligned basal cells, stratified and well differentiated squamous, granular layers and stratum corneum and well vascularized dermal compartment without inflammatory cells infiltration. Conclusion: The cultivated AM-LSE with autologous cells can repair skin defect and survive for a long term without rejection.

Tissue expansion in treatment of facial congenital giant nevus / 中华医学美学美容杂志

Objective To investigate the effect of tissue expansion in facial congenital giant nevus.Methods From October 2014 to October 2016,7 cases of facial congenital giant nevus patients were treated with expanded skin flaps,including single expansion and secondary expansion.Partial excision and skin tissue expansion were used to drastically remove giant pigmented nevi on body or extremities of infants.There were some points for attention during the surgery:the size and location of the partial excision and expander should be designed reasonably;no tumor-manipulation and non-tension principle should be taken great notice,and expanders should be linked up with one another when several expanders were used at the same time,so as to reduce the possibility of forming the envelop,which was favorable for the second surgery of transfer of a skin flap.Results All cases of giant pigmented nevi excision were on the face,which were completely removed from the patients.The areas of the nevi were from 7 cm × 5 cm to 15 cm × 13 cm.All patients were followed up for 3-12 months (mean 6 months).All flaps survived well.Expander exposure was happened in 2 cases with no bad results.One case of scar received late repair due to surgical scars and all got satisfactory results.Conclusions Tissue expansion is an ideal method in the treatment of facial congenital giant nevus.

Encephalocraniocutaneous lipomatosis with neurocutaneous melanosis.

Encephalocraniocutaneous lipomatosis is a rare neurocutaneous syndrome characterized by classical cutaneous and ocular lesions with central nervous system anomalies. We describe an infant with classical encephalocraniocutaneous lipomatosis characterized by probable naevus psiloliparus, frontal subcutaneous lipomas, ocular limbal dermoids and arachnoid cysts, and ventriculomegaly. He also had giant congenital nevus with leptomeningeal melanosis. This case represents a rare association between encephalocraniocutaneous lipomatosis and neurocutaneous melanosis.

Nevo sebáceo de Jadassohn gigante / Nevus sebaceous giant Jadassohn

El nevo sebáceo de Jadassohn es un nevo epidérmico compuesto predominantemente por glándulas sebáceas. Clínicamente se presenta como placas redondas u ovales, de color rosado o a veces amarillento, que se localiza en cuero cabelludo, cara, frente, cuello, tronco o extremidades. Estas lesiones pueden alcanzar gran tamaño y provocan en ocasiones una importante deformidad estética. En estos casos poseen alta incidencia de degeneración maligna.Presentamos este caso debido a lo llamativo del tamaño de la lesión...

Nevus Sebaceous of Jadassohn is a compound epidermal nevus formedpredominantly by sebaceous glands. It presents as round or oval, pinkishor yellow plaque localized to scalp, frontal region, face and neck, trunk andlimbs. NSJ is capable of growing to a considerably size and important estheticimplication.We present this case due to the important extension of the lesion...

A Case Report of a Giant Epidermal Nevus on the Scalp

PURPOSE: Epidermal nevi are hamartomas of the skin with multiple clinical variants. Normally, epidermal nevi present at an early age, are found on the head and neck area, and have a female predominance. Only very rarely do epidermal nevi have an adult onset. Most lesions are small and giant Epidermal nevi (> 5 cm at its greatest diameter) are quite rare. Huge verrucous plaque was observed on the scalp of a 70-year-old man. He had been reclusive for a long time, and this problem might have played a crucial role in the development of the giant epidermal nevi. METHODS: A punch biopsy and MRI imaging were performed. The huge mass was resected. A local flap and split thickness skin graft was used for reconstruction. RESULTS: The histology examination revealed the characteristic findings of epidermal nevus. Postoperatively, the patient did not suffer from complications or recurrence. CONCLUSION: A rare case of a huge epidermal nevus on the scalp of an elderly man was treated with a surgical excision. This is the oldest patient reported with an adult onset epidermal nevus in Korea.

Serial Reconstruction Considerating the Aesthetic Unit on Congenital Giant Nevus in Periorbital Area

PURPOSE: Soft tissue deformity and skin defect after tumor resection in the periorbital area can cause trouble in the function of eyelid as well as in the aspect of external appearance. Therefore, as cosidering reconstruction in periorbital area, detailed assessment of both functional and aesthetic property are required. thus, the purpose of this study is to examine an appropriate reconstruction through clinical cases. METHODS: A 14-year-old girl with congenital giant hairy nevus on right periorbital area was selected. Her first visit to our plastic surgery outpatient clinic was on July 2006. Since then, she has undergone staged removal of lesions and reconstruction by various flap technique such as pedicled island flap, forehead galeal flap, paramedian forehead flap, cheek rotation & advancement flap. RESULTS: In the case of this girl, most lesions were removed and replaced by normal skins. Although there was the difference of skin color after skin graft, such difference was not noticeable and section scar by skin flaps was slight. There was no obvious dysfunction in the eyelids and the girl and her parents were satisfied with results after the surgery. CONCLUSION: In the reconstruction of soft tissue defect or soft tissue deformity and contracture, it is required to choose appropriate reconstruction method, considering aesthetic and functional aspects depending on aesthetic unit sufficiently.

Cutaneous ganglioneuroma within a giant congenital nevus.

Cutaneous ganglioneuroma has only occasionally been reported in the literature. Cutaneous ganglioneuroma is seen even more rarely in association with a giant congenital nevus. Differential diagnosis includes malignancies, especially melanoma and metastatic neuroblastoma. It is essential to rule out malignancy in a solid lesion within a congenital nevus. The present report is possibly the first relating ganglioneuroma and a congenital nevus to a cervical mass detected during routine prenatal ultrasound.

Les neurocytomes cutanés sont peu déclarés dans la documentation scientifique. Ils sont encore plus rares en association avec un naevus congénital géant. Le diagnostic différentiel inclut la malignité, et surtout des mélanomes et des neuroblastomes métastatiques.Il est impératif d'écarter la possibilité de malignité dans une lésion solide d'un naevus congénital. Le présent compte rendu est peut-être le premier reliant un neurocytome et un naevus congénital à une masse cervicale décelée pendant une échographie prénatale systématique.