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.

[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.

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.