Giant Naevus Research Articles

A Rare Case of Diffuse Neurofibroma Mimicking as Hairy Naevus or Vascular Malformation: A Surgeon’s Perspective

Nevi are areas of melanocytic hyperplasia or neoplasia. These collections can be found in the epidermis, partially in the dermis, or completely within the dermis. They commonly develop in childhood and young adulthood and sometimes spontaneously regress. Exposure to Ultraviolet (UV) radiation is associated with increased density of these lesions. In contrast, neurofibromas are benign proliferations made up of all nerve elements and arise as fleshy and non tender, sessile, or pedunculated masses on the skin. They can arise sporadically or in association with type 1 Neurofibromatosis (NF), and in these cases, are associated with café-au-lait spots and Lisch nodules. In the present report, authors present a case diagnosed clinically as a giant naevus on the dorsum of the right hand in an adult patient (26-year-old female) with no other associated secondary swellings elsewhere in the body. However, further radiological investigations revealed a case of vascular malformation. Postoperatively, histopathological examination showed features of diffuse neurofibroma. The present case report enables the surgeon to consider various rare differential diagnosis for swelling in the extremities, even when it is not reflected in the clinical or radiological findings. Thus, a detailed history, physical examination, and various diagnostic tests, keeping in mind all possible differential diagnosis, should be performed.

Histopathological characteristics analysis of giant melanocytic naevi in children.

The major diagnostic criterion for the giant congenital melanocytic nevus (GCMN) is a size larger than 20 cm in diameter. However, the histopathological origin, pathogenesis, and GCMN progression are not yet completely clear. Unlike other medium or small superficial lesions, histomorphological evaluation is significant for GCMN pathological classification, malignant transformation assessment, and early detection of prognosis. This study aimed to investigate the pathological features of GCMN, including its satellite lesions. Twenty-three giant naevi and seventeen "satellite lesions" were collected from children aged 1 to 10 in Shanghai Ninth People's Hospital from 2018 to 2020. A histological study was conducted to evaluate their histological appearance. All the data observed and recorded data were statistically analyzed. In 23 cases of GCMN primary nevus, nevus cells were mainly distributed in the dermal region, with melanocyte proliferation and the presence of nevus nests at the dermal-epidermal junction. However, in satellite nevus, a junctional growth pattern was noted. Additionally, other histopathologic features, including epidermal contour, cell morphology, and architecture disorder also showed significant differences between primary nevus and satellite nevus. We demonstrated that the congenital pattern of the main nevus is more obvious than one of the satellite nevus, suggesting that the satellite nevus and the main nevus may occur slightly later than the main nevus. "Satellite nevus" happens as a result of a separate genetic event.

32 Congenital Arteriovenous Malformation of The Breast Associated with Giant Hairy Naevus: A Case Report

Abstract Introduction An arteriovenous malformation (AVM) is defined as an abnormal connection between arteries and veins, bypassing the capillary system. AVM of the breast is a rare clinical entity, with limited evidence to guide management. We present the case of a congenital AVM of the breast in an otherwise healthy woman, with an interesting presenting complaint. Case Description A 38-year-old female presented with a ‘buzzing’ sensation and mastalgia in her left breast. Examination revealed a visible pulsatile linear abnormality with a bruit on auscultation. Duplex ultrasonography demonstrated mixing of the arterial and venous flow, consistent with an AVM. Operative management entailed ultrasound guided identification, ligation and excision of all aneurysmal segments. Histopathologic evaluation demonstrated an AVM with no malignant features. At one year postoperatively, the patient reported complete symptom resolution. Literature review identified nine case reports, including two cases of congenital breast AVM, both treated surgically. Seven cases of iatrogenic AVM were identified, with diagnosis based on duplex ultrasonography and management by surgical ligation in all except one, which resolved spontaneously. Conclusions ongenital AVM of the breast is a rare clinical entity. Diagnosis can be established using duplex ultrasonography, while CT and MRI may be useful for preoperative planning. Endovascular management alone is associated with high recurrence rates and surgical excision is the favoured approach where technically feasible without major aesthetic or functional compromise.

Melanotic Neurofibroma: A Case Report

Introduction: Melanotic neurofibromas are rare tumours, derived from peripheral nerve sheath, whose originality consists in the presence of melanic pigment. The clinical and histological diagnosis is often difficult to make requiring the immunohistochemical exam to make the difference between melanotic neurofibroma and the other pigmented tumors. Melanotic neurofibroma has a good prognosis and the malignization is rare. Case Report: A 22 year-old man presented since childhood a left occipital tumor, it had a firm consistency and pigmented color. CT objectified isodense occipital mass, which enhanced heterogeneously after contrast product. Lack of bone loss beside. Complete surgical excision was performed. Histological and immunohistochemical analysis led to the diagnosis of melanotic neurofibroma. Discussion: Pigmented neurofibroma is a rare variant of neurofibroma showing melanin production and constitute less than 1% of all cases. It can occur on their own or be associated with neurofibromatosis. They must be distinguished from classical neurofibromas when pigmentation occurs in the latter. Melanotic neurofibromas usually appear in the second or third decade of life and rarely in childhood. The clinical diagnosis is difficult to establish requiring the histopathological examination to differentiate between the melanotic neurofibroma and other pigmented tumours. It can mimicking a giant naevus or a neurocristic cutaneous hamartoma. These are the two main differential diagnoses among children. Among adults, the main difficulty is to distinguish melanotic neurofibroma from pigmented dermatofibrosarcoma. The elective treatment is surgical, represented by the complete excision of the tumor. Conclusion: Pigmented neurofibroma is a unique subtype of neurofibroma which is rare and contains melanin producing cells. The histopathological features with unique pattern of melanogenesis, ultrastructural findings and immunohistochemistry will enable us to diagnose this entity and differentiate it from other pigmented tumours of skin.

Subcutaneous Malignant Melanoma developing in Congenital Giant Naevus with Complete Spontaneous Regression of Superficial Dermo-Epidermal Part:A Case Report

Giant congenital melanocytic nevi a ≥ 20 cm is rare in adolescents and adults. Here we present a case of subcutaneous melanoma developing in congenital giant naevus with complete regression of superficial dermoepidermal part. A 17 yr old girl presented with a painless and gradually increasing swelling in her right temporal region on pre-existing giant congenital menocytic naevus (GCMN) on right hemiface. FNAC proved the case as malignant melanoma of temporal region with metastatic deposit in cervical lymph node. On histopathological examination it was found that the melanoma arising deep in the subcutaneous tissue with extensive involvement of deeper structures, extensive metastasis of cervical lymph nodes, salivary glands, deeper soft tissues with spontaneous regression of superficial epidermal and dermal part. Though regression is seen in melanomas, spontaneous regression has been mostly seen in melanomas with only intraepidermal component.

A case of giant naevus followed up for 22 years after treatment with artificial dermis

We present an ultra-long followed-up case in which an artificial dermis was used for the treatment of a giant naevus. A 5-year-old boy had a giant naevus on his lower back and both buttocks. The light black pigmentation extended to the lower abdomen and both upper thighs. The lesions on the lower back and both buttocks were treated using the artificial dermis Pelnac in three operative series every 2 years. After removal of the lesion, Pelnac was placed onto the skin defect. Three weeks postoperatively, the silicone film was peeled off and a thin split-thickness skin graft (STSG) taken from the upper-middle back was placed on the regenerated dermis-like connective tissue. Thin STSGs were harvested from the same upper back area repeatedly. The lesions on both posteromedial upper thighs and the lower abdomen were treated in three operative series using tissue expanders. Finally, tissue expanders were inserted subcutaneously in both buttocks where Pelnac had been used 5 years or 7 years before. The lesions around the anus were reconstructed using the expanded skin and local skin flaps. Twenty-two years after the first operation, both grafted and donor sites keep good condition not only cosmetically but also functionally.

Advanced skin, scar and wound care centre for children: A new era of care

Advanced wound care centres are now a well established response to the growing epidemic of chronic wounds in the adult population. Is the concept transferable to children? Whilst there is not the same prevalence of chronic wounds in children there are conditions affecting the integumentary system that do have a profound effect on the quality of life of both children and their families. We have identified conditions involving the skin, scars and wounds which contribute to a critical number of potential patients that can justify the setting up of an advanced skin, scar and wound care centre for children. The management of conditions such as giant naevi, extensive scarring and epidermolysis bullosa challenge medical professionals and lead to new and novel treatments to be developed. The variation between and within such conditions calls for a customizing of individual patient care that involves a close relationship between research scientists and clinicians. This is translational medicine of its best and we predict that this is the future of wound care particularly and specifically in children.

Clinical experience of the treatment of giant congenital benign tumours of the back

Congenital giant benign tumours of the back are rarely seen or reported. They pose two challenges to plastic surgeons: copious intraoperative bleeding, and an extensive raw area left after removal of the tumour. We have treated five cases of congenital giant benign tumour of the back. The largest was a neurofibroma in a woman, which weighed 36.29 kg and she had 10,000 ml of blood transfused to replace the blood loss during operation. We achieved total excision of the tumours in all cases and covered the extensive wounds with skin harvested from the tumours themselves in one stage. Among the five cases, four were neurofibromas and one was a giant naevus. All grafted skin took, and there were no recurrences. The tumours were radically excised in one stage and the extensive wounds covered with the skin with good take and no risk of recurrence.

Giant naevus, giant excision, eleg(i)ant closure? Reconstructive surgery with Integra Artificial Skin ® to treat giant congenital melanocytic naevi in children

The optimal surgical treatment of giant congenital melanocytic naevi remains a considerable challenge in reconstructive surgery. None of the currently available techniques is universally applicable. The goal of this pilot study was to test Integra Artificial Skin (Integra) in the surgical treatment of giant congenital melanocytic naevi. Between May 2000 and March 2004, Integra was used in 12 children (n=12; aged seven months to 11 years, mean 3.8 years). Giant congenital melanocytic naevi covered 1-12% of the total body surface area (mean 4.2%) located over the trunk in 50%, and over face and extremities in 25% each. In eight children, Integra implantation was primarily successful; in four patients a partial or complete removal and re-implantation was necessary due to complications. The final take rate of Integra ranged from 95-100%, except for one patient with a take rate of 30% (mean 93%). Second stage split-thickness skin grafting yielded take rates from 95-100% (mean 98%). Functional and cosmetic outcome was rated excellent in 58%, good in 25% and fair in 17% (follow-up six months to four years, mean 2.2 years). These results suggest that Integra is a new and valid method to successfully treat giant congenital melanocytic naevi in early childhood in a definitive manner and with high-quality results.

Neurofibrome mélanotique

Melanotic neurofibromas are rare tumours. The clinical and histological diagnosis is often difficult to make. A 41 year-old woman with type-1 neurofibromatosis presented with an old, large (16 cm by 6 cm) pigmented tumour on her left arm. It was initially considered to be a congenital naevus. Partial surgical resection was performed. Histological examination showed a loose proliferation of spindle-cells within the dermis and subcutaneous layers, with multiple foci of melanin-laden cells but no mitotic figures or atypical cells. There was no melanocytic theca. The tumour had immunoreactivity for the S-100 protein, neuron-specific-enolase, neurofilaments, synaptophysin, A-103 and HMB-45. The association of a benign pigmented tumour producing melanin and the presence of Schwann cells and nervous cells, led to the diagnosis of diffuse melanotic neurofibroma. Melanotic neurofibromas can occur on their own or be associated with neurofibromatosis. They must be distinguished from classical neurofibromas when pigmentation occurs in the latter. Melanotic neurofibromas usually appear in the second or third decade of life and rarely in childhood. It is worth noting that hairs may overlie a melanotic neurofibroma, mimicking a giant naevus or a neurocristic cutaneous hamartoma. These are the two main differential diagnoses among children. Among adults, the main difficulty is to distinguish melanotic neurofibroma from pigmented dermatofibrosarcoma, because of the clinical and histological similarities between these two.

Long-term results of surgical excision and skin grafting for a giant hairy naevus of the face: time for a return to conventional wisdom?

In a publication climate demanding modern innovative treatments for congenital giant hairy naevi, we report a case with excellent long-term results following early surgical excision and split-thickness skin grafting.

External tissue stretching for closing skin defects in 22 patients.

In this prospective study, we treated 12 women and 10 men with a newly developed skin-stretching system. The stretching device was used for the closure of 9 fasciotomies and for preoperative skin extension before excision of 6 tattooes, 7 splitskin transplants, 4 giant naevi, and 3 scars. The stretching device was placed under the skin, using local anesthesia. The patient stretched the skin. The mean stretching time was 4 (2-11) days. 20 patients completed the expansion successfully, with no pain or only slight discomfort. In 2 cases, we observed minor complications during the expansion. The external skin-stretching system can be used to obtain primary closure of defects where splitskin transplants otherwise would be necessary. The method can be applied in out-patients, using local anesthesia.

Expanded postauricular wolfe grafts

Expansion of full thickness grafts is a relatively new technique and its use, especially in the head and neck area, has not been described until recently. We have used large bilateral postauricular expanded full thickness grafts in a child with a giant hairy naevus of the face. The donor scars are well hidden, and the grafts have not shown any tendency to contract in both the short and the long term.

Giant cerebriform naevus of the scalp

Giant cerebriform naevi (GCN) are rare scalp lesions which require surgery because of their growth potential and possible malignant behaviour. Three cases of GCN underwent excision and primary repair of the scalp. In one case secondary repair by skin expansion was performed. The histological and immunohistochemical studies showed both melanocytic and neuroid differentiation of the growing cells and characterized the lesions as GCNs. S-100 protein, neurono specific enolase and somatostatin-like cell immunostains were in agreement with the neuroectodermal histogenesis of GCNs suggesting their hamartomatous nature.

Bulky naevocytoma of the perineum: A singular variant of congenital giant pigmented naevus

We describe two instances of a previously unrecognized variant of congenital giant pigmented naevus (GPN), presenting as a bulky naevocytic tumour in the perineal region. In both cases the lesion was present at birth and attained massive dimensions. In addition to the characteristic histological patterns found in GPN, which included extensive areas with a neural appearance, these tumours presented an uncommon tendency to form pseudo-follicular structures lined by naevus cells. No features suggestive of malignant transformation were found. Because GPN may associate with an underlying malignancy, accurate diagnosis of this lesion is important in clinical practice.

Birthmarks in 4346 Finnish newborns.

We examined all babies born live (4346) at two Finnish hospitals in the course of one year to determine the frequency of birthmarks, specially pigmented lesions, among Finnish newborns. All birthmarks excluding common salmon patches on the forehead and neck were recorded and photographed at birth. The babies were re-examined at the age of three months. Various birthmarks were recorded for 241 of 4346 babies, i.e. for 5.5% of all newborns. Ninety-one (2.1%) infants had congenital pigmented skin lesions, 167 (3.8%) had various vascular lesions and 21 (0.5%) had other birthmarks. The frequency of congenital melanocytic naevi was 1.5%. Most of the naevi were less than 20 mm in diameter. Only one child had a giant naevus. The frequency of congenital naevi in our study was the same or somewhat higher than previously described (1-8) but fewer other pigmented skin lesions were found than in previous studies perhaps due to racial differences.

Congenital malignant melanoma

A case is reported of congenital malignant melanoma that occurred in the absence of maternal melanoma or a congenital giant naevus. The patient had the melanoma on the left thigh excised 54 days after birth, but later died at the age of 18 months with multiple metastases.

NEOPLASMS Malignant Giant pigmented naevus

NEOPLASMS Malignant Giant pigmented naevus

Variations in S-100 protein expression in naevocellular naevi may be related to metabolic activity.

Significant amounts of S-100 protein were demonstrated in naevus cells by an immunoperoxidase technique. Distribution of S-100 protein was similar in the various types of naevi tested. In most lesions, the superficial A-type naevus cells stained most heavily, while staining was weaker in the deeper B- and C-type naevus cells. The intensity of staining was not, however, homogeneous in the cells of the various layers of the naevus. S-100 protein was especially abundant in giant naevus cells which occurred in the vicinity of sub-epidermal A-type naevocytes. Cells from neurocutaneous melanosis contained extremely large amounts of S-100 protein. Normal melanocytes in the epidermis over dermal naevi contained variable amounts of S-100 protein, but mainly showed weak staining. However, in the basal epidermis of traumatized naevi there were many unusually large and partly dendritic melanocytes. In this part of the epidermis, S-100 protein-positive cells lay close together, and many stained strongly. In earlier work, large amounts of metabolic enzymes were found at the same sites in traumatized naevi and giant cells. These results suggest that a high degree of expression of S-100 protein is due to metabolic activity shown, for example, by giant naevus cells and basal melanocytes of the regenerating epidermis over traumatized naevi.

Malignant melanoma in childhood

Malignant melanoma in childhood is fortunately a rare condition. The last account of such a case as that described in this report was published in this Journal seven years ago (Oldbourne and Harrison, 1974). Stewart Harrison's patient was also a young girl. It is apparent that when a congenital pigmented hairy naevus is too small to be regarded as a giant naevus and malignant change is not anticipated, early diagnosis may be missed and with it the very small chance of cure. When malignant melanoma occurs in childhood it behaves no differently from the tumour in adults.