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J Plast Reconstr Aesthet Surg 2022 Apr 29. Epub 2022 Apr 29.

Department of Plastic and Reconstructive Surgery, Xijing Hospital, Fourth Military Medical University, 127 Changle West Road, Xi'an 710032, People's Republic of China. Electronic address:

Background: Congenital and acquired facial lesions around the hairline can bring huge physical and psychological trauma to patients. At present, reconstruction of this area remains a challenge. In this study, we present an alternative technique to reconstruct the aesthetic units using an expanded scalp flap combined with laser hair removal. Read More

Trends Cancer 2022 Jun 17. Epub 2022 Jun 17.

Laboratory of Cancer Biology and Genetics, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA. Electronic address:

Patients with congenital giant nevi (CGN), which can compromise quality of life and progress to melanoma, have limited treatment options. Choi et al. have demonstrated that topical application of a proinflammatory hapten for alopecia treatment [squaric acid dibutylester (SADBE)] caused nevus regression and prevented melanoma in an Nras mouse CGN model. Read More

J Am Acad Dermatol 2022 Jun 15. Epub 2022 Jun 15.

Department of Dermatology, Massachusetts General Hospital, Boston, MA; Dermatology Program, Department of Allergy and Immunology, Boston Children's Hospital, Boston, MA; Harvard Medical School, Boston, MA.

Background: High-risk congenital melanocytic nevi (CMN) are associated with abnormalities of the central nervous system, prompting MRI screening guidelines.

Objective: Describe MRI brain and spine abnormalities in children with CMN and report trends between nevus features, MRI findings, and neurologic outcomes.

Methods: Retrospective review of individuals aged ≤ 18 years with an MRI of brain and/or spine and at least 1 dermatologist-diagnosed CMN. Read More

Niger J Clin Pract 2022 Jun;25(6):960-963

Department of Orthopedics and Traumatology, Marmara University Pendik Training and Research Hospital, Istanbul, Turkey.

Giant congenital melanocytic nevus (GCMN) is a rare congenital benign neoplasm with the potential to become malignant. Various extracutaneous malformations may accompany GCMN. Acetabular dysplasia accompanying GCMN was described in previous studies. Read More

J Cutan Pathol 2022 Jun 14. Epub 2022 Jun 14.

The Warren Alpert Medical School of Brown University, Department of Dermatology.

Basaloid follicular hamartomas (BFH) are rare, benign, cutaneous adnexal tumors characterized by branching cords and anastomosing strands of basaloid cells in a loose, fibrous stroma. BFH exhibit variable clinical presentations although they are commonly observed as skin to flesh colored papules and are diagnosed based on histological features. Common systemic diseases associated with BFH include alopecia, myasthenia gravis, and palmoplantar pitting. Read More

Case Rep Dent 2022 2;2022:7890338. Epub 2022 Jun 2.

Department of Oral and Maxillofacial Pathology, Institute of Dental Sciences, Siksha 'O' Anusandhan University, Bhubaneswar, Odisha, India.

Hamartomas are tumor-like deformities typified by cellular propagation indigenous to the original site, although they display growth arrest without the possibility for further growth. Various hamartomatous oral lesions include hemangiomas, lymphangiomas, nevi, odontomas, Cherubism, etc. Lymphangiomas are benign, developmental hamartomatous entities typified by abnormal proliferation of lymphatic vessels. Read More

Facial Plast Surg Aesthet Med 2022 Jun 10. Epub 2022 Jun 10.

Department of Plastic and Reconstructive Surgery, Shanghai Ninth People's Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China.

The cervical or thoracic region is currently the main donor site for repair of facial multiunit defects (FMUDs); however, its extensive clinical utilization encompasses the need for flap prefabrication and microsurgical techniques. To illuminate the feasibility of treating FMUD with expanded scalp flaps and laser depilation. From 2016 to 2020, 17 patients with facial giant congenital melanocytic nevi (GCMN) underwent scalp expansion for FMUD reconstruction. Read More

J Coll Physicians Surg Pak 2022 Apr;32(4):S31-S33

Department of Ophthalmology, Rashid Latif Medical College, Lahore, Pakistan.

A 45-year female presented in the Outpatient Department of a tertiary care hospital of Lahore with dimness of vision in the right eye. Her history revealed that the patient had noticed decreased vision since her childhood. Fundus examination revealed a jet-black slightly raised lesion about the size of ¼-disc diameter, located in the centre of macula. Read More

J Eur Acad Dermatol Venereol 2022 May 27. Epub 2022 May 27.

Department of Dermatology, Puerta del Mar University Hospital, 2ª planta. Avenida Ana de Viya 21, 11009, Cádiz, Spain.

Clin Ter 2022 May;173(3):214-216

Dermatology Unit "Daniele Innocenzi", Department of Medical-Surgical Sciences and Bio-Technologies, Sapienza University of Rome, Fiorini Hospital, Polo Pontino, Terracina, Italy.

Abstract: Blue nevi are a heterogeneous group of lesions that can display a variety of different clinicopathological characteristics. Although attempts are made to classify each lesion into defined subtypes, there can be overlap between the subtypes. The clinical , dermoscopic and histolopathologic features of a case of proliferative nodule arising within blue nevus is discussed. Read More

Pathol Res Pract 2022 Jul 14;235:153942. Epub 2022 May 14.

Department of Experimental, Diagnostic and Specialty Medicine (DIMES), University of Bologna, Bologna 40100, Italy; Dermatology Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna 40100, Italy.

Background: dysplastic nevi (DN) share some clinical and histological features with melanoma and have been considered intermediate lesions toward malignant transformation. However, scientific evidence of DN representing melanoma precursors is still incomplete, and many observations pointed toward their being a distinct biological entity. The current definition of DN is also confusing and the practical consequence of this uncertainty is the excessive excision of DN with severe atypia. Read More

J Cosmet Dermatol 2022 May 20. Epub 2022 May 20.

Department of Brun and Plastic Surgery, Children's Hospital of Chongqing Medical University, National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorder, Chongqing, China.

Background: Congenital melanocytic nevi (CMN), benign pigmented birthmarks caused by the mutation of melanocytic cells during embryofetal development, can cause aesthetic problem when it is located on the face. Surgical managements of facial CMN are required by both pediatric patients and their parents. Surgical management, including excision or staged excision, skin grafting, dermabrasion, tissue expansion or multiple re-expansion combined with flaps transplantation, have been reported previously. Read More

Pigment Cell Melanoma Res 2022 Jul 31;35(4):450-460. Epub 2022 May 31.

Oncobell Program, Bellvitge Biomedical Research Institute (IDIBELL), Barcelona, Spain.

We recently reported an RAF rearrangement without NRAS or BRAF mutations in lesions from Giant Congenital Melanocytic Nevi (CMN). The new gene fusion involves the 5'-end of the promoter-containing N terminus of the SOX5 gene fused to exons 7-16 of the 3'-end of RAF1 gene leading to a SOX5-RAF1 fusion transcript which loses the auto-inhibitory CR1 domain but retains the complete in-frame coding sequence for the C-Terminal kinase domain of the RAF1. Stable expression of SOX5-RAF1 fusion induced growth factor-independent cell growth in murine hematopoietic Ba/F3 cells and melan-a immortalized melanocytes. Read More

Prenat Diagn 2022 06 27;42(7):927-933. Epub 2022 May 27.

Medical Genetics Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.

Objectives: To reach a molecular diagnosis for a family with two consecutive fetuses presenting with multiple congenital anomalies.

Methods: The two fetuses underwent prenatal ultrasound, autopsy, radiologic, and genetic investigation. Genetic analysis included karyotype and array-CGH for both fetuses and trio-based whole exome sequencing (WES) only for the second fetus. Read More

J Invest Dermatol 2022 May 14. Epub 2022 May 14.

Department of Dermatology, The Affiliated Hospital of Guizhou Medical University, Guiyang, China; Department of Dermatology and Venereology, School of Clinical Medicine, Guizhou Medical University, Guiyang, China. Electronic address:

OPN3, as a member of the opsin family, has various nonlight-dependent functions. Congenital melanocytic nevus (CMN) is a skin lesion with dark pigmentation that appears at birth and can be initiated by the BRAF mutation in melanocytes. However, the role of OPN3 in BRAF CMN cell melanogenesis has never been reported. Read More

J Oral Maxillofac Res 2022 Jan-Mar;13(1):e5. Epub 2022 Mar 31.

Department of Oral Medicine & Pathology and Hospital Dentistry, School of Dentistry, National and Kapodistrian University of AthensGreece.

Background: Oral melanocytic nevi are relatively rare in comparison to their cutaneous counterparts. The aim of this manuscript is to present a case of acquired compound oral melanocytic nevi on the hard palatal mucosa of a child.

Methods: A 5-year-old female girl was referred for evaluation of a pigmented lesion on the hard palate. Read More

J Dermatol 2022 May 13. Epub 2022 May 13.

Department of Dermatology, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.

Phacomatosis pigmentokeratotica (PPK) is a rare epidermal nevus (EN) syndrome, featured by co-occurrence of speckled lentiginous nevus (SLN) and nevus sebaceous (NS). The underlying mechanism has not been clarified. Pathogenic mutations in HRAS, KRAS and BRAF gene are recently recognized as the genetic cause of PPK. Read More

Cell 2022 Jun 12;185(12):2071-2085.e12. Epub 2022 May 12.

Department of Translational Molecular Medicine, Saint John's Cancer Institute Providence Health and System, Santa Monica, CA 90404.

Giant congenital melanocytic nevi are NRAS-driven proliferations that may cover up to 80% of the body surface. Their most dangerous consequence is progression to melanoma. This risk often triggers preemptive extensive surgical excisions in childhood, producing severe lifelong challenges. Read More

Orphanet J Rare Dis 2022 05 7;17(1):189. Epub 2022 May 7.

Interventional Radiology, Nemours Children's Hospital, Orlando, FL, USA.

Background: PROS disorders are driven by somatic, gain-of-function mutations in PIK3CA that result in hyperactivation of the phosphatidylinositol-3-kinase (PI3K) signaling pathway. PROS encompasses a broad spectrum of overlapping phenotypes (including overgrowth and vascular malformations) that vary significantly in their severity; every case is unique, leading to different, complex experiences. Here, we aim to describe the PROS experience from the patients' and caregivers' points of view, from onset to diagnosis to treatment and support. Read More

Australas J Dermatol 2022 May 5. Epub 2022 May 5.

Department of Dermatology, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain.

Proliferative nodules (PNs) are benign nodular proliferation of melanocytes occurring within congenital melanocytic naevi (CMN). Differential diagnosis between PN and melanoma is challenging for clinicians and pathologists. We describe the case of a 9-month-old boy who developed multiple nodules arising in a medium-sized CMN. Read More

Am J Ophthalmol Case Rep 2022 Jun 14;26:101539. Epub 2022 Apr 14.

Sankara Eye Hospital, Sathy Road, Coimbatore, Tamil Nadu, India.

Purpose: To report a rare case of congenital uveal malignant melanoma from Indian subcontinent in an infant with multiple cutaneous naevi and no distant metastasis.

Observation: An 8 month old male child presented with proptosis and black discoloration in the right eye since birth. Enucleation of the right eye was performed and specimen sent for histopathology and immunohistochemical analysis. Read More

J Pediatr Ophthalmol Strabismus 2022 Apr 21:1-15. Epub 2022 Apr 21.

Purpose: To report wide-field fundus imaging and fluorescein angiography findings in conditions mimicking retinoblastoma (pseudoretinoblastoma).

Methods: The clinical and imaging records of 28 patients (36 eyes) imaged with RetCam 3 (Clarity Medical Systems, Inc) wide-field fundus photography and fluorescein angiography who were diagnosed as having various pseudoretinoblastoma disorders between February 2020 and August 2021 were retrospectively evaluated.

Results: Most patients were referred with suspicion of retinoblastoma. Read More

Clin Cosmet Investig Dermatol 2022 13;15:621-630. Epub 2022 Apr 13.

Department of Radiology, Acıbadem Mehmet Ali Aydınlar University School of Medicine, İstanbul, Turkey.

CLOVES syndrome is a novel sporadic mosaic segmental overgrowth syndrome, currently categorized under the canopy of PROS (-related overgrowth spectrum) disorders. All PROS disorders harbor heterozygous postzygotic activating somatic mutations involving the gene. As an upstream regulator of the signal transduction pathway, activating mutations of gene commence in uncontrolled growth of cutaneous, vascular (capillaries, veins, and lymphatics), adipose, neural, and musculoskeletal tissues. Read More

Am Surg 2022 Apr 17:31348221084949. Epub 2022 Apr 17.

Department of Pediatric Surgery, 14423Arkansas Children's Hospital, Little Rock, AR, USA.

Blue Rubber Bleb Nevus Syndrome is a congenital rarity that manifests as vascular malformations throughout the body, including the gastrointestinal tract. With fewer than 300 cases reported, the etiology and clinical course is poorly understood; however, the literature suggests mutations on chromosome 9 result in unregulated angiogenesis. We present the case of a young female treated for anemia of unknown etiology who presented in hemorrhagic shock due to gastrointestinal hemorrhage necessitating small bowel resection, with cutaneous, intestinal, hepatic, and lingual vascular malformations associated with a single somatic pathologic mutation. Read More

BMC Urol 2022 Apr 4;22(1):50. Epub 2022 Apr 4.

Al-Azhar Faculty of Medicine for Girls, 21 Ibrahium Anes St, Al Nozha, Cairo, 11834, Egypt.

Background: A wide spectrum of complications are reported after male circumcision (MC), the non-aesthetic complications are well known, but the pigmentary complications scale are not reported precisely.

Methods: This is a prospective cohort study of 550 circumcised boys; aged from 6 months to 14 years (62% aged 5 years) who were examined and appropriately investigated for the incidence of pigmentary complications after circumcision. Most diagnoses were clinically, but dermoscopy was done for 17 case and a skin biopsy for 14 cases. Read More

J Neurosurg Spine 2022 Apr 1:1-7. Epub 2022 Apr 1.

1Division of Vascular and Interventional Radiology.

Objective: Clinical manifestations of blue rubber bleb nevus syndrome (BRBNS) and multifocal venous malformation (MVM) vary depending on the location of the lesions. The aim of this study was to assess the risk of developing CSF leaks in patients with epidural venous malformations (VMs).

Methods: The authors retrospectively investigated the relationship between the development of a CSF leak and the presence of epidural VMs. Read More

Ophthalmic Plast Reconstr Surg 2022 Mar 30. Epub 2022 Mar 30.

Department of Ophthalmology and Visual Sciences, Vanderbilt University Medical Center, Nashville, Tennessee.

A male neonate presented with an isolated congenital right orbital vascular malformation without other mucocutaneous lesions or signs/symptoms of systemic disease. The orbital mass was progressive, causing amblyogenic ptosis by 6 months of age. Over 11 years, the patient underwent 4 orbital mass resections, 3 embolizations, and even a craniotomy with mass resection for an intraorbital meningoencephalocele secondary to orbital bony erosion. Read More

Eur J Med Genet 2022 May 26;65(5):104472. Epub 2022 Mar 26.

Department of Dermatology, Medical Center - University of Freiburg, Freiburg, Germany. Electronic address:

Cutis marmorata telangiectatica congenita (CMTC) is characterized by coarse-meshed capillary malformations arranged in asymmetrically distributed patches. The disorder may be associated with hyper- or hypoplastic limbs, syndactyly, cleft palate, and glaucoma. Because the disease usually occurs sporadically, the concept of a lethal mutation surviving by mosaicism was proposed about 30 years ago. Read More

Arch Craniofac Surg 2022 Apr 30;23(2):83-88. Epub 2022 Mar 30.

International Aesthetic Medical Center, E-Da Dachang Hospital, Kaohsiung, Taiwan.

Nevus sebaceous of Jadassohn is a congenital cutaneous hamartoma with epidermal, sebaceous, follicular, and apocrine structures that usually appears at birth or in early childhood. It has the potential to generate a variety of secondary neoplasms of different lineages, and the risk increases with patient age. Although multiple neoplasms may occasionally arise within the same lesion, the coexistence of more than five secondary tumors is extremely rare. Read More

Orbit 2022 Mar 17:1-5. Epub 2022 Mar 17.

Department of Orbit and Oculoplasty, Aravind Eye Hospital and PG Institute of Ophthalmology, Madurai, India.

Epidermal nevus syndrome is a rare congenital disorder affecting only a few hundred people in the world. It has ophthalmic, dermatological, and neurological manifestations, with varied presentation. Here, we report a case of two-year-old child who presented with epibulbar mass in left eye, pigmented nevi over left side of the body and alopecia over left side of parieto-temporal scalp. Read More