The clinicopathologic features of pediatric melanoma are distinct from those of the adult counterpart. For example, most childhood melanomas exhibit a uniquely favorable biologic behavior, save for those arising in large/giant congenital nevi. Recent studies suggest that the characteristically favorable biologic behavior of childhood melanoma may be related to extreme telomere shortening and dysfunction in the cancer cells. Read More
Nevus sebaceus of Jadassohn is a congenital tumour affecting the scalp and face. It is usually presented as a pigmented patch or plaque. It is a complex cutaneous hamartoma which involves pilosebaceous follicle, epidermis and adnexal structures. Read More
We present a 4-month-old infant with an eczematous halo around a congenital melanocytic nevus. After diagnostic excision, histopathologic examination revealed a Meyerson's nevus. This is a benign skin tumour that may show clinical signs of melanoma. Read More
The use of pedicled and free flaps for tissue transfer and coverage has become a common practice in modern plastic surgery. An area that presents considerable challenge for tissue coverage is the groin. Defects in this area are complicated by issues such as prior surgery; scar contracture; extension of the defect beyond the borders of the groin; radiation damage; high probability of infection; and involvement of vital underlying structures, the genitalia, and perineal and perianal area. Read More
Congenital lipomatous overgrowth, vascular malformations, epidermal nevi, spinal/skeletal anomalies and/or scoliosis syndrome is a PIK3CA-related overgrowth spectrum presenting with congenital, asymmetric, disproportionate overgrowth associated with dysregulated adipose tissue, enlarged bony structures, and mixed primarily truncal vascular malformations. We present this case to raise awareness that very thin body habitus (lipoatrophy) contrasting with areas of overgrowth can be an important clinical feature of this syndrome and, if not recognized, can lead to unnecessary investigations. Read More
Department of Dermatology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts; Vascular Anomalies Center, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts. Electronic address:
Background: CLOVES (congenital lipomatous overgrowth, vascular malformations, epidermal nevi, and skeletal anomalies) syndrome is associated with regional bony and/or soft tissue overgrowth, capillary malformation, and an increased risk for Wilms tumor.
Objective: To evaluate the frequency of Wilms tumor in patients with 2 similar conditions: diffuse capillary malformation with overgrowth (DCMO) and macrocephaly-capillary malformation (M-CM).
Methods: Culling our Vascular Anomalies Center database, we retrospectively reviewed patients in whom DCMO and M-CM had been diagnosed and who were evaluated between 1998 and 2016 for possible development of Wilms tumor. Read More
Division of Hematology and Oncology, Department of Pediatrics, Rutgers Robert Wood Johnson Medical School, New Brunswick, NJ; Cancer Institute of New Jersey at the Bristol-Myers Squibb Children's Hospital, Robert Wood Johnson University Hospital, New Brunswick, NJ.
Persistent embryonic veins represent a major source of venous hypertension and morbidity in venous malformation syndromes, such as Klippel-Trénaunay syndrome and congenital lipomatous overgrowth, vascular malformations, epidermal nevus, and skeletal deformities syndrome. Surgical stripping and phlebectomy are the most commonly reported alternatives to compression therapy for refractory cases. These techniques, although effective in those patients who meet the necessary anatomic criteria, can be associated with bleeding, wound-related complications, and recurrence. Read More
We present a case of collision tumor composed of a combined melanocytic nevus with superficial congenital and deep penetrating components and a fibroepithelioma of Pinkus on the left lumbar back of a 21-year-old male. He presented to the dermatologist for evaluation of numerous moles, and the lesion in question was described as a brown variegated papule with slightly irregular shape and irregular borders. This case is being reported as it is very unusual to see a fibroepithelioma of Pinkus in conjunction with a melanocytic lesion. Read More
Klinik für Dermatologie, Venerologie und Allergologie, Universität Leipzig, Philipp-Rosenthal-Str. 23, 04103, Leipzig, Deutschland.
We report the case of a 12-year-old girl with a smooth muscle hamartoma of the right index finger. Smooth muscle hamartoma (SMH) is a congenital, relatively common disorder typically with predominance of autochthonal arrector pili muscles. An SMH can also rarely originate from smooth muscles of vessels in palmoplantar skin with the absence of pilosebaceous units. Read More
Department of Plastic and Reconstructive Surgery, The First Bethune Hospital of Jilin University, Changchun, China.
Eyebrows play an important role in face expression and facial mimics by virtue of muscle contraction. Defects or deformity of the eyebrows result in abnormal facial expressions, and may lead to aesthetic issues for patients. The objective of this study is to report the case of a patient, with a congenital skin pigmented nevus at the right side of the eyebrow treated with direct surgical resection and followed by immediate reconstruction of the eyebrow with a V-Y advancement pedicle flap based on the orbicularis oculi muscle. Read More
Congenital and infantile malignant melanomas are rare and typically carry poor prognosis. The purpose of this article was to review the data on congenital and infantile malignant melanomas of the scalp in order to understand its presentation, diagnosis, management, and outcomes of congenital melanoma of scalp. We searched PubMed, CINAHL and Cochrane databases. Read More
Open Access Maced J Med Sci 2017 Jul 22;5(4):549-550. Epub 2017 Jul 22.
Department of Dermatology and Venereology, Medical University of Plovdiv, 15A Vasil Aprilov blvd., 4002 Plovdiv, Bulgaria.
We present a 6-month-old male patient, who was consulted with dermatologist by his parents, because of a pigmented lesion, present since birth, covering almost the all skin of the back and buttocks. A sharply bordered, unequally coloured congenital pigmented nevus, measuring approximately 21 cm in diameter was observed in the whole body skin examination. The lesion was affecting the lower 2/3 of the skin of the back and the top half of the gluteus area, extending to the lateral part of the tors, forward the abdomen and the upper lateral part of the hips, composed by multiple darker-pigmented nests and several lighter areas, with single depigmented zones, hairy surface, irregularly infiltrated on palpation. Read More
Open Access Maced J Med Sci 2017 Jul 18;5(4):533-534. Epub 2017 Jul 18.
Department of Dermatology and Allergology, Academic Teaching Hospital Dresden-Friedrichstadt, Friedrichstrasse 41, 01067, Dresden, Germany.
A 61-year-old woman, with a lifelong history of a giant congenital melanocytic nevus in the occipital region with secondary development of giant melanoma is presented. Surgical excision was performed, and the histopathological evaluation confirmed the diagnosis of Giant Malignant Melanoma (GMM) with a maximum tumour thickness of 16 mm. Nowadays, there is tremendous uncertainty regarding how giant congenital melanocytic nevi (GCMN) should be treated. Read More
Vascular malformations are a heterogeneous group of entities, many of which present in the pediatric age group. Sonography plays a major role in the management of children with these vascular anomalies by providing information that helps in diagnosing them, in assessing lesion extent and complications, and in monitoring response to therapy. The interpretation of sonographic findings requires correlation with clinical findings, some of which can be easily obtained at the time of scanning. Read More
Researchers have identified a subset of Holstein having a range of skeletal deformities, including vertebral anomalies, referred to as complex vertebral malformation due to mutations in the SLC35A3 gene. Here, we report the first case in humans of SLC35A3-related vertebral anomalies. Our patient had prenatally diagnosed anomalous vertebrae, including butterfly, and hemivertebrae throughout the spine, as well as cleft palate, micrognathia, patent foramen ovale, patent ductus arteriosus, posterior embryotoxon, short limbs, camptodactyly, talipes valgus, rocker bottom feet, and facial dysmorphism including proptosis, nevus flammeus, and a cupped left ear. Read More
Department of Plastic Surgery, Hyogo College of Medicine, Nishinomiya, Hyogo 663-8501, Japan.
A Japanese baby was born with a polypoidal projection with hair, on the lateral corner of upper eyelid. The tumour had extent to bulbar sub-conjunctival area. He presented no other malformation nor pathological symptoms. Read More
Background: Nevus of Ota is a rare disease most frequently found in Asians. It presents clinically as a bluish gray hyperpigmentation of one side of the face. Transformation into melanoma and glaucoma are the main risks. Read More
aInstitute of Social Medicine and Epidemiology bInstitute of Cancer Epidemiology, University of Lübeck, Lübeck, Germany cDepartment of Social and Behavioral Sciences, Harvard T.H. Chan School of Public Health, Boston, Massachusetts dCenter for Dermatoepidemiology, VA Medical Center Providence eDepartment of Dermatology, Rhode Island Hospital, Providence fDepartments of Dermatology and Epidemiology, Brown University, Providence, Rhode Island, USA gDermatology Center, Division of Molecular Cell Biology, Elbe Clinics Stade-Buxtehude, Buxtehude hAssociation of Dermatological Prevention e.V., Hamburg, Germany.
Early detection is considered to improve the prognosis of cutaneous melanoma. The value of population-based screening for melanoma, however, is still controversial. The aim of this study was to evaluate the predictive power of established risk factors in the setting of a population-based screening and to provide empirical evidence for potential risk stratifications. Read More
Int J Low Extrem Wounds 2017 06 17;16(2):143-145. Epub 2017 Apr 17.
4 Department of neurology, General hospital Bjelovar, Bjelovar, Croatia.
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. Read More
The aim of this case review was to touch upon the various clinical presentations and diagnostic features of Sturge-Weber syndrome (SWS) as seen in the dental/medical practice. Sturge-Weber syndrome is a rare congenital disorder that belongs to a group of disorders collectively known as the phakomatoses. The characteristic pathological elements of the disease include leptomeninges angioma extending out to cerebral cortex with angiomatous lesions on the same side and unilateral facial nevus that affects trigeminal nerve division. Read More
Purpose Of Review: This review provides an update of the classification in the classification of vascular anomalies since April 2014 at the International Society for the Study of Vascular Anomalies meeting in Melbourne, Australia.
Recent Findings: The reader will become familiar with how to diagnose the major vascular malformations, including capillary, venous, arteriovenous, and lymphatic and combinations thereof. In addition, vascular malformation syndromes, including those with overgrowth, will be clarified. Read More
Introduction: Klippel-Trenaunay syndrome (KTS) is a rare congenital mesodermal abnormality characterized by varicose veins, cutaneous capillary malformation, as well as bone and soft tissue hypertrophy. Case Report: A 2-week-old female infant presented to our clinic because of vascular nevus and progressive enlargement of her right extremities and trunk since birth. The patient was treated with 595-nm pulsed-dye laser (PDL). Read More
Background: CLOVES syndrome is associated with somatic mosaic PIK3CA mutations and characterized by congenital lipomatous overgrowth, vascular malformations, epidermal nevi, and skeletal anomalies. Wilms tumor (WT) is a malignant embryonal renal neoplasm associated with hemihypertrophy and certain overgrowth disorders. After identifying WT in a child with CLOVES, we questioned whether ultrasonographic screening was necessary in these patients. Read More
Inserm U1151, hôpital Necker-Enfants malades, 149, rue de Sèvres, 75015 Paris, France; Université Paris Descartes, Sorbonne Paris Cité, 149, rue de Sèvres, 75015 Paris, France; Service de néphrologie transplantation adultes, hôpital Necker-Enfants malades, 149, rue de Sèvres, 75015 Paris, France. Electronic address:
This review presents an overview of a recently characterized spectrum of overgrowth syndrome: phosphoinositide-3 kinase (PI3K)-related overgrowth spectrum (PROS). This spectrum encompasses overgrowth syndromes associated with somatic mosaic activating PIK3CA mutations such as megalencephaly-capillary malformation (MCAP) syndrome, dysplatic megalencephaly (DMEG), congenital lipomatous asymmetric overgrowth of the trunk, lymphatic, capillary, venous, and combined-type vascular malformations, epidermal nevi, skeletal and spinal anomalies (CLOVES) syndrome, hemihyperplasia-multiple lipomatosis (HHML), fibroadipose overgrowth and Klippel-Trenaunay syndrome. Mosaic gain of function mutation in PIK3CA gene leads to abnormal AKT-mTOR pathway activation and is responsible of the clinical manifestations. Read More
Background: Disfigurement of the face caused by postburn scars, resected congenital nevi and vascular malformations has both functional and psychological consequences. Ideal reconstruction of the facial components requires producing not only function but also the better appearance of the face. The skin of the neck, supraclavicular or cervicothoracic regions are the most commonly used and the most likely source of skin for facial reconstruction in those techniques which prefabrications with tissue expansion are used. Read More
Congenital Lipomatous Overgrowth, Vascular Malformations, Epidermal Nevi and Spinal Abnormalities (CLOVES syndrome) is a newly described and rare overgrowth disorder with serious morbidity. The course of this disease is not well understood and few cases have been reported among neonates. Moreover, not all of the signs of this syndrome are present at birth, making a high index of suspicion necessary. Read More
Fibroblastic connective tissue nevus (FCTN) is a rare, benign, dermal mesenchymal hamartoma that affects children. We report a 15-year-old boy with a congenital FCTN and describe the clinical, dermatoscopic, and histopathologic features. Read More
Although giant congenital melanocytic nevus is a rare lesion, it causes significant deformity and carries a risk of malignant degeneration. Different surgical techniques for the lesion removal are described, including serial resection, resection with skin grafting, and resection and coverage with expanded skin flap (skin expanders). The aim of this study is to report the author's 40 years of experience with cases requiring at least 4 serial excisions to complete the treatment. Read More
Proliferative nodules can occasionally arise on congenital and acquired melanocytic nevi. At first sight their clinical and pathologic features cause alert to both dermatologist and dermatopathologist. However, proliferative nodules are typically benign, regression is common and there is minimum risk of malignization. Read More
Background:: Large congenital melanocytic nevus (LCMN) is considered a risk factor for melanoma, although the magnitude of this risk is controversial.
Objective:: To evaluate the risk of melanoma development in patients with LCMN seen at a dermatology referral center in Brazil during a twelve-year period. To the best of our knowledge, there are no published similar studies on large congenital melanocytic nevus in South America. Read More
The purpose of this paper is to highlight the risk of early malignant transformation in infants with giant congenital melanocytic nevi (GN) and demonstrate the potential for earlier intervention with aggressive surgery. We describe the case of a child born with a GN who developed a metastatic melanoma early in life, despite early commencement of resection of the nevus. This is contrasted against a second case of a child in which a more radical management was conducted. Read More
J Mol Diagn 2017 Jul 11;19(4):487-497. Epub 2017 May 11.
Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania; Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania. Electronic address:
Somatic variants have been well described in tumorigenesis; however, they are only recently appreciated in other human disorders, such as mosaic overgrowth syndromes. Although overgrowth is a manifestation in many genetic syndromes, not all overgrowth syndromes are inherited. Mosaic somatic variants have been lately described in several overgrowth disorders, such as Proteus syndrome, CLOVES (congenital, lipomatous, overgrowth, vascular malformations, epidermal nevi, and spinal/skeletal anomalies and/or scoliosis) syndrome, and megalencephalyepolymicrogyria-polydactyly-hydrocephalus syndrome. Read More
Background: Burn scar reconstruction is extremely challenging, even for the most proficient reconstructive surgeon. Within the arsenal of tools at the plastic surgeon's disposal, tissue expansion provides an efficient modality for reconstruction despite the reported complication rates.
Objectives: To critically review our experience with tissue expansion for burn scar reconstruction, comparing particularly the adult and pediatric populations. Read More
Academic Teaching Hospital Dresden-Friedrichstadt, Department of Dermatology and Allergology; Medical Institute of Ministry of Interior (MVR), Department of Dermatology and Dermatologic Surgery, Sofia, Bulgaria.
Inflammatory linear verrucous epidermal nevus (ILVEN) is a relatively rare disorder with an onset at early age, consisting of pruritic linear papules and/or plaques and histologic features resembling psoriasis or lichenoid dermatitis. The disease is a version of mosaicism caused by somatic mutations. ILVEN belongs to the heterogeneous group of congenital hamartomas of embryonal ectodermal origin, as a variant of verrucous epidermal nevus, representing approximately 5% of all epidermal nevi, with predominance in females and with general therapeutic resistance. Read More
Paediatric melanoma, although rare, is the most common skin cancer in children. Our current knowledge on paediatric melanoma incidence trends is expanding, as several studies have addressed this issue with conflicting results. Known risk factors for paediatric melanoma include family history of melanoma, a previous history of malignancy, large congenital nevi, numerous melanocytic nevi, sunburns, increased UV exposure and a sun-sensitive phenotype. Read More
Tissue expansion is a popular technique in plastic and reconstructive surgery that grows skin in vivo for correction of large defects such as burns and giant congenital nevi. Despite its widespread use, planning and executing an expansion protocol is challenging due to the difficulty in measuring the deformation imposed at each inflation step and over the length of the procedure. Quantifying the deformation fields is crucial, as the distribution of stretch over time determines the rate and amount of skin grown at the end of the treatment. Read More
Familiar genetic disorders such as neurofibromatosis type I (NF1), tuberous sclerosis complex (TSC), oculocutaneous albinism (OCA), basal cell nevus syndrome (BCNS), incontinentia pigmenti, ichthyosis, and epidermolysis bullosa (EB) have prominent, cutaneous manifestations. This review describes recent advances in knowledge concerning the pathophysiology, diagnosis, and treatment of these skin features. Specifically, clinical diagnostic criteria for incontinentia pigmenti, ichthyosis, and tuberous sclerosis have been updated. Read More
Nevus sebaceus of Jadassohn, a congenital cutaneous hamartoma, has the potential to develop into various epidermal adnexal-origin neoplasms. While the most common neoplasms are trichoblastoma or syringocystadenoma, proliferating trichilemmal cysts are exceptionally rare. We report a case of a 63-year-old Cuban male with a giant proliferating trichilemmal cyst arising from a nevus sebaceus on the right shoulder which had been growing for 30 years. Read More
Abnormal findings on routine skin exams are common and can be a source of unnecessary medical workup if a clinician is unfamiliar with the finding. Sebaceous nevi are rare skin lesions that are most often benign but may be associated with a multiorgan syndrome or local skin cancer. Dermatologists and primary care physicians may encounter these on routine exams and thus must be comfortable with diagnosis and management. Read More
Proteus syndrome is a rare sporadic disorder that appears with localized macrosomia, congenital lipomatosis, and slow flow vascular malformations, connective tissue nevus, and epidermal nevus. There are usually some manifestations at birth. The vascular abnormalities that have been reported in Proteus syndrome are capillary and slow flow venous malformation. Read More
The aim of our study was to use tissue expansion for the treatment of giant congenital melanocytic nevi of the upper extremity and examine potential advantages over traditional techniques.There were 3 stages in the treatment of giant congenital melanocytic nevi of the upper extremities using tissue expansion: first, the expander was inserted into the subcutaneous pocket; second, the expander was removed, lesions were excised, and the wound of the upper extremity was placed into the pocket to delay healing; third, the residual lesion was excised and the pedicle was removed. The pedicle flap was then unfolded to resurface the wound. Read More
Spitz naevi (SN) are benign melanocytic naevi characterized by spindled and epithelioid cells in histology seen in both children and adults. In the present study, we aimed to determine whether there is a difference in the dermoscopic features of SN by age and anatomic site. Previous studies have demonstrated this association in congenital and common naevi. Read More
Benign melanocytic nevi are slowly growing acquiredor congenital tumors with varied morphology,commonly encountered in dermatology clinics. Anytumor with rapid clinical growth must be assessedcarefully in order to exclude malignancy. We report awoman with a histopathologically benign intradermalnevus that presented as a rapidly evolving largecutaneous mass on the ear. Read More