Congenital divided nevus of the eyelids is a rare form of melanocytic nevus which involves contiguous portions of the upper and lower eyelid margins unilaterally, hence the term ‘kissing nevus’. While usually present at birth, these nevi may also appear later in life. When the mass enlarges, it may cause cosmetic issues to the patient, as well as functional problems such as mechanical ptosis, ectropion, and epiphora.

We report three cases of congenital divided nevus of the eyelids, all presenting with unilateral upper and lower hyperpigmented lid masses since birth. The first case had an upper lid mass measuring 11 mm x 19 mm, and a lower lid mass measuring 55 mm x 47 mm, with both masses extending into the palpebral conjunctiva, and causing severe ptosis and corneal neovascularization due to chronic irritation. The second case presented with hyperpigmented masses at the lateral third of the right upper eyelid measuring 8 mm x 17 mm and of the lower eyelid measuring 9 mm x 15 mm on the lower lid with lashes growing through the masses. There was extension of the mass into the palpebral conjunctiva. The third case presented with a 23 x 18 mm hyperpigmented, well-circumscribed, verrucated mass at the medial half of the upper eyelid crossing the eyelid margin, and a 15 x 13 mm lesion at the medial third of the lower lid with the same characteristics, with small crusty lesions and clotted blood. All three patients underwent excision biopsy with lid reconstruction using full thickness skin grafts from the supraclavicular area. Six months postoperatively, the first case underwent a repeat full thickness skin graft due to graft contraction, and also received two sessions of fractional carbon dioxide (CO2 ) laser, two sessions of intralesional triamcinolone injections, and silicone gel application with further improvement of graft healing and scarring. The second case also underwent two sessions of intralesional steroid injection for scar management. During follow-up, which spanned 13 months for the first case, 10 months for the second case, and two months for the third case, improved functional and cosmetic outcomes were observed.

This case series highlights the outcomes of the most common surgical technique done for congenital divided nevi of the eyelids. Congenital divided nevi are usually diagnosed clinically and malignant degeneration is rare, hence lid reconstruction may be done without frozen section. The cases in the series were treated due to cosmetic and functional purposes, hence the importance of continuous post-operative follow-up to monitor for graft dehiscence, scar development, recurrence of the mass, malignant degeneration, and development of lid malposition. Additional procedures for scar management, such as CO2 laser and intralesional steroid injections, may be necessary to further enhance outcomes in complex cases. All three cases in this series exhibited improved functional and cosmetic outcomes post-operatively, with significant reduction in ptosis and scarring. Longterm follow-up revealed satisfactory recovery with minimal complications, with no recurrence nor malignant degeneration.

Human ; Male ; Female ; Adult: 25-44 Yrs Old ; Young Adult: 19-24 Yrs Old ; Nevus ; Nevus, Pigmented

Basal Cell Nevus Syndrome (BCNS) is a rare autosomal dominant disorder characterized by a range of abnormalities, most notably multiple basal cell carcinomas (BCCs), odontogenic keratocysts, and palmar and/or plantar pits. BCC is the most common form of skin cancer globally. It is typically locally invasive and very rarely metastasizes, with distal metastases occurring in only 0.00028% to 0.55% of cases.

We present a case of a 68-year-old Filipino woman who was diagnosed with BCNS. She presented with multiple black nodules and plaques on her face and neck, histopathologically confirmed as BCCs. In addition, the presence of palmoplantar pits and calcification of the falx cerebri met three of the six major criteria for BCNS. Computed tomography (CT) and bone scans, revealed multiple bone metastases in the cranium, spine, sternum, and ribs. No previous cases of metastasis in a BCNS patient have been reported in the Philippines, making this the first documented case.

Human ; Female ; Aged: 65-79 Yrs Old ; Basal Cell Nevus Syndrome ; Carcinoma, Basal Cell

OBJECTIVES: Verrucous epidermal nevus (VEN), seborrheic keratosis (SK), verruca plana (VP), verruca vulgaris (VV), and nevus sebaceous (NS) are common verrucous proliferative skin diseases with similar clinical appearances, often posing diagnostic challenges. Dermoscopy and reflectance confocal microscopy (RCM) can aid in their differentiation, yet their specific features under these tools have not been systematically described. This study aims to summarize and analyze the dermoscopic and RCM features of VEN, SK, VP, VV, and NS. METHODS: A total of 121 patients with histopathologically confirmed verrucous proliferative skin diseases were enrolled. Dermoscopy and RCM imaging was used to observe and analyze the microscopic features of these conditions. RESULTS: Under dermoscopy, the 5 diseases displayed distinct characteristics: VEN typically showed gyriform structures; SK was characterized by gyriform structures, comedo-like openings, and milia-like cysts; VP and VV featured dotted vessels and frogspawn-like structures; NS presented as brownish-yellow globules. RCM revealed shared features such as hyperkeratosis and acanthosis across all 5 diseases. Specific features included gyriform structures and elongated rete ridges in VEN; pseudocysts and gyriform structures in SK; evenly distributed ring-like structures in VP; vacuolated cells and papillomatous proliferation in VV; and frogspawn-like structures in NS. CONCLUSIONS These 5 verrucous proliferative skin conditions exhibit distinguishable features under both dermoscopy and RCM. The combination of these 2 noninvasive imaging modalities holds significant clinical value for the differential diagnosis of verrucous proliferative skin diseases.
Humans ; Dermoscopy/methods* ; Diagnosis, Differential ; Microscopy, Confocal/methods* ; Male ; Female ; Adult ; Middle Aged ; Adolescent ; Keratosis, Seborrheic/pathology* ; Young Adult ; Warts/diagnosis* ; Child ; Aged ; Skin Diseases/pathology* ; Nevus, Sebaceous of Jadassohn/diagnosis* ; Skin Neoplasms/diagnosis* ; Child, Preschool

OBJECTIVES

To present a rare case of a 17-year-old girl with multiple odontogenic keratocysts, skeletal abnormalities, central nervous system and cutaneous anomalies.

METHODS

Design:Case Report

Setting:Tertiary Government Training Hospital

Patient: One

RESULTS

A 17-year-old Filipino girl presented with a one-year history of progressive left mandibular swelling. Orthopantomography revealed multiple cysts involving the mandible and maxillae. Histopathologic examination of incision biopsy specimens confirmed odontogenic keratocysts. Other physical examination findings included coarse face and multiple palmar and plantar pits. Radiologic investigations demonstrated calcification of the falx cerebri and tentorium cerebelli, bifid rib and cervicothoracic scoliosis. Based on clinical, radiological, and histopathological findings, a diagnosis of Gorlin-Goltz syndrome was established. The patient underwent enucleation and curettage of the cysts with peripheral ostectomy, and there was no recurrence on repeat orthopantomography at six months and two years post-operatively. However, on the fourth year, the patient claimed there was a mandibular cyst which was not verified as she was lost to follow-up.

CONCLUSION

This case highlights the importance of recognizing multiple odontogenic keratocysts as a potential manifestation of Gorlin-Goltz Syndrome. Early diagnosis enables appropriate management and long term surveillance to monitor for other manifestations of this syndrome that may occur later in life.

Human ; Female ; Adolescent: 13-18 Yrs Old ; Basal Cell Nevus Syndrome ; Mandible ; Radiography, Panoramic ; Focal Dermal Hypoplasia ; Ribs ; Scoliosis ; Spinal Cord ; Women ; History ; Lost To Follow-up ; Diagnosis

Congenital divided nevus of the eyelids is a rare form of melanocytic nevus which involves contiguous portions of the upper and lower eyelid margins unilaterally, hence the term ‘kissing nevus’. While usually present at birth, these nevi may also appear later in life. When the mass enlarges, it may cause cosmetic issues to the patient, as well as functional problems such as mechanical ptosis, ectropion, and epiphora.

We report three cases of congenital divided nevus of the eyelids, all presenting with unilateral upper and lower hyperpigmented lid masses since birth. The first case had an upper lid mass measuring 11 mm x 19 mm, and a lower lid mass measuring 55 mm x 47 mm, with both masses extending into the palpebral conjunctiva, and causing severe ptosis and corneal neovascularization due to chronic irritation. The second case presented with hyperpigmented masses at the lateral third of the right upper eyelid measuring 8 mm x 17 mm and of the lower eyelid measuring 9 mm x 15 mm on the lower lid with lashes growing through the masses. There was extension of the mass into the palpebral conjunctiva. The third case presented with a 23 x 18 mm hyperpigmented, well-circumscribed, verrucated mass at the medial half of the upper eyelid crossing the eyelid margin, and a 15 x 13 mm lesion at the medial third of the lower lid with the same characteristics, with small crusty lesions and clotted blood. All three patients underwent excision biopsy with lid reconstruction using full thickness skin grafts from the supraclavicular area. Six months postoperatively, the first case underwent a repeat full thickness skin graft due to graft contraction, and also received two sessions of fractional carbon dioxide (CO2 ) laser, two sessions of intralesional triamcinolone injections, and silicone gel application with further improvement of graft healing and scarring. The second case also underwent two sessions of intralesional steroid injection for scar management. During follow-up, which spanned 13 months for the first case, 10 months for the second case, and two months for the third case, improved functional and cosmetic outcomes were observed.

This case series highlights the outcomes of the most common surgical technique done for congenital divided nevi of the eyelids. Congenital divided nevi are usually diagnosed clinically and malignant degeneration is rare, hence lid reconstruction may be done without frozen section. The cases in the series were treated due to cosmetic and functional purposes, hence the importance of continuous post-operative follow-up to monitor for graft dehiscence, scar development, recurrence of the mass, malignant degeneration, and development of lid malposition. Additional procedures for scar management, such as CO2 laser and intralesional steroid injections, may be necessary to further enhance outcomes in complex cases. All three cases in this series exhibited improved functional and cosmetic outcomes post-operatively, with significant reduction in ptosis and scarring. Longterm follow-up revealed satisfactory recovery with minimal complications, with no recurrence nor malignant degeneration.

Human ; Male ; Female ; Adult: 25-44 Yrs Old ; Young Adult: 19-24 Yrs Old ; Nevus ; Nevus, Pigmented

Basal cell nevus syndrome is a rare autosomal dominant disorder with a prevalence of between 1in 60,000 to 1in 120,000. This disorder is associated with a panoply of phenotypic that includes developmental anomalies and tumors particularly basal cell carcinoma. The genetic abnormality in almost all known cases is a mutation in the PATCHED] gene which is essential for normal body and limb patterning.? abnormalities We report a 50-year-old Filipina who suffered from multiple recurrent pigmented papules, plagues, nodules, and tumors on the face with the first tumor appearing at age 20.
Basal Cell Nevus Syndrome

A 3-year-old boy presented with bluish patch and scattered blue spots on the left side of his face. After several sessions of laser treatment, the azury patch in the periorbital area became even darker. Histopathology showed many bipolar, pigment-laden dendritic cells scattered in the papillary and upper reticular dermis. Immunohistochemically, these cells were positive for S100, SOX-10, melan-A, P16, and HMB-45. The positive rate of Ki-67 was less than 5%. Finally, the lesion was diagnosed with nevus of Ota concurrent with common blue nevus. Therefore, for cases of the nevus of Ota with poor response to laser treatment, the possible coexisting diseases should be suspected.
Male ; Humans ; Child, Preschool ; Nevus, Blue/pathology* ; Nevus of Ota/therapy* ; Skin/pathology* ; Face ; Skin Neoplasms/pathology*

Two male patients with bifid rib-basal cell nevus-jaw cyst syndrome (BCNS) were admitted to Department of Stomatology, the First Affiliated Hospital of Bengbu Medical College due to radiological findings of multiple low density shadows in the jaw. Clinical and imaging findings showed thoracic malformation, calcification of the tentorium cerebellum and falx cerebrum as well as widening of the orbital distance. Whole exon high-throughput sequencing was performed in two patients and their family members. The heterozygous mutations of c.C2541C>A(p.Y847X) and c.C1501C>T(p.Q501X) in PTCH1 gene were detected in both patients. Diagnosis of BCNS was confirmed. The heterozygous mutations of PTCH1 gene locus were also found in the mothers of the two probands. Proband 1 showed clinical manifestations of low intelligence, and heterozygous mutations of c.C2141T(p.P714L) and c.G3343A(p.V1115I) were detected in FANCD2 gene. Proband 2 had normal intelligence and no FANCD2 mutation. The fenestration decompression and curettage of jaw cyst were performed in both patients. Regular follow-up showed good bone growth at the original lesion, and no recurrence has been observed so far.
Humans ; Male ; Basal Cell Nevus Syndrome/diagnosis* ; Mutation ; Nevus ; Patched-1 Receptor/genetics* ; Pedigree ; Ribs/abnormalities*

Introduction: Epidermal nevi are hamartomas of the epidermis and papillary dermis that are usually present during the first years of life. Rarely, malignant transformations develop in association with epidermal nevi. Few cases have been reported worldwide, however the lifetime risk and incidence are unknown. Case Report: This is a case series about basal cell carcinoma arising on epidermal nevus. The first patient is a 42-year-old Filipino female, who presented with a verrucous plaque at birth on the left temple which then developed multiple, discrete to confluent, grayish, papules and nodules on the surface. Histological examination revealed nevus sebaceus and basal cell carcinoma, pigmented type. The second patient is a 53-year-old Filipino male, who presented with a papillomatous plaque on the left temple since the first year of life which then increased in size along with the presence of a solitary bluish-black macule noted by dermoscopic examination. Histologic examination showed verrucous epidermal nevus and basal cell carcinoma, pigmented type. Conclusion Two rare cases of basal cell carcinoma arising on epidermal nevus are reported. Despite the rarity of malignant transformation on epidermal nevus, any suspicious growth warrants a biopsy. Knowledge of these cases is important for probing suspicious growth over an epidermal nevus that would prompt early treatment before these lesions progress in size making it harder to manage.
epidermal nevus ; nevus sebaceus ; verrucous epidermal nevus ; basal cell carcinoma

Objective: To detect the SMO mutations in odontogenic keratocyst (OKC) and to explore the mechanism behind. Methods: Patients with OKC who received treatment in the Department of Oral and Maxillofacial Surgery, School and Hospital of Stomatology,Peking University, from September 2012 to June 2017 were enrolled. OKC samples from 10 patients diagnosed as naevoid basal cell carcinoma syndrome (NBCCS)-related OKC (4 females and 6 males) and 20 patients diagnosed as sporadic OKC (7 females and 13 males) were collected. Genomic DNAs were extracted from fibrous capsules and epithelial lining respectively. SMO mutations were detected and analyzed by Sanger sequencing. Results: Three SMO mutations were found in one NBCCS-associated OKC who carrying c.2081C>G (p.P694R) mutation) and two sporadic OKC who carrying c.907C>T (p.L303F) mutation and c.1247_1248delinsAA (p.G416E), respectively), among which the first two mutations were novel mutations that had not been reported before. Besides, two mutations in sporadic OKC were not paired with PTCH1 mutations. Conclusions: In addition to PTCH1 gene mutations, SMO gene mutations also exist in OKC which might be related to the development of OKC.
Basal Cell Nevus Syndrome/genetics* ; Female ; Humans ; Male ; Mutation ; Odontogenic Cysts/genetics* ; Odontogenic Tumors/genetics* ; Smoothened Receptor/genetics*