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.
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.
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.

To investigate the feasibility of human amniotic membrane-living skin equivalent (AM-LSE) in repairing the skin defect.
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.
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.
The cultivated AM-LSE with autologous cells can repair skin defect and survive for a long term without rejection.
探讨临床应用以人羊膜为基质的活性皮肤替代物（amniotic membrane-living skin equivalent，AM-LSE）修复皮肤缺损的可行性。.
2016 年 7 月收治 1 例 5 岁颈肩背部先天性巨痣患儿。首先取其正常皮肤分离扩增表皮角化细胞和真皮成纤维细胞，再以自愿捐赠的人去上皮 AM 为基质，经气液面培养 10 d 构建含有真皮基质和重层分化表皮的 AM-LSE。对 AM-LSE 行大体及组织学观察。手术切除巨痣至深筋膜层，遗留创面面积为 20 cm×15 cm；覆盖胶原蛋白海绵人工真皮，2 周后改用 AM-LSE 贴敷于肉芽创面，之后常规换药。术后观察 AM-LSE 成活以及创面修复效果。.
气液面培养 10 d 后，成功构建具有真皮层以及重层分化良好的表皮层的 AM-LSE。临床修复术后见 AM-LSE 贴敷良好，逐渐扩大融合，至术后 6 个月其色泽接近正常皮肤，质地柔软，皮片间隙为淡红色瘢痕。组织学观察，可见呈柱状紧凑排列的基底层细胞，以及分化的棘细胞层、颗粒层以及角质层。真皮层内分布大量成纤维细胞以及血管，未见明显炎性细胞浸润。.
采用自体皮肤细胞构建的 AM-LSE 移植修复创面可行，术后能长期存活，且无排斥反应。.

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.
METHODS: 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.

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.