Nevoid basal cell carcinoma syndrome or multiple hereditary infundibulocystic basal cell carcinoma syndrome?

Clearance of a Thick Invasive Squamous Cell Carcinoma After Multiple Treatments with Topical Photodynamic Therapy

“…No significant findings were noted (for example, maxillary keratocytes and musculoskeletal malformation that are distinct manifestations of Gorlin-Glotz syndrome, numerous BCC syndromes). 10 Lung, liver, spleen, pancreas, adrenal gland, and kidney were normal. The crusts were removed by a curette for facilitating the access of the photosensitizer before application of 5-aminolevulinic acid (ALA).…”

Basal cell carcinoma: Epidemiology, clinical and histologic features, and basic science overview

“…Due to the multifocal nature of this variant, it is also associated with a somewhat higher recurrence rate38 .Infundibulocystic typeClinical: Originally considered a BCC with follicular differentiation39,40 , infundibulocystic BCC often arises on the head and neck of the elderly. Clinically, it often present as pearly papules and multiple lesions could be encountered in the context of BCNS and the Multiple Infundibulocystic BCC syndrome, which some believe are likely related entities[41][42][43] .Histopathology: Microscopically, this BCC variant is represented by a well-circumscribed tumor composed of anastomosing strands of basaloid cells with scattered small infundibulum-like cystic structures(Figure 1E, bottom image). This variant often behaves more indolently than other BCC types but it should be distinguished from benign follicular adnexal processes such as basaloid follicular hamartoma and trichoepithelioma42,44,45 .Fibroepithelioma of PinkusClinical: This uncommon and indolent BCC variant commonly affects the trunk, particularly the flanks, and resembles a firm, skin colored or erythematous fibroepithelial polyp or seborrheic keratosis.Histopathology: A peculiar microscopic pattern characterize this BCC type, represented by delicate strands of basaloid cells originating multifocally from the epidermis and disposed in an anastomosing "net-like" pattern with intervening spindle cell stroma46 (Figure 1E, top image).Aggressive BCC variantsDiffuse/Infiltrative/Morpheaform typeClinical: Presenting as an ill-defined flat and indurated whitish-pink plaque, these lesions are predominantly found on the head and neck and are notoriously difficult to treat.Histopathology:The Infiltrative/morpheaform BCC variant is characterized by infiltrating thin strands and small islands of basaloid cells that are embedded in classic mucinous/myxoid stroma in case of the infiltrating type and in sclerotic, collagenous stroma in case of the morpheaform variant47 (Figure 1D, bottom image).…”

Familial seborrhoeic keratosis associated with multiple ‘pure reticulated acanthomas’ and infundibulocystic basal cell carcinomas

“…There was no evidence of myasthenia gravis, palmar or plantar pits, hypotrichosis or hypohidrosis. Orthopantomography did not show jaw cysts or any other features of Gorlin syndrome or generalized basaloid follicular hamartoma syndrome, and no skeletal dysplasias were present. Therefore, Gorlin syndrome could be clinically excluded.…”

“…Several types of genodermatosis with multiple cutaneous tumours with adnexal differentiation have been described, such as naevoid basal cell carcinoma syndrome (NBCCS, Gorlin syndrome), multiple hereditary infundibulocystic basal cell carcinoma (ICBCC), generalized basaloid follicular hamartoma syndrome, Bazex–Dupé–Christol syndrome, Brown–Crounse syndrome and Rombo syndrome, as well as multiple hereditary trichoepithelioma or seborrhoeic keratoses . In some of these conditions, gene alterations such as mutations in PTCH1 in Gorlin syndrome, silent polymorphism in exon 5 of PTCH1 or common haplotype at the NBCCS locus on chromosome 9 of PTCH1 in multiple hereditary ICBCC, multiple hereditary trichoepithelioma or generalized basaloid follicular hamartoma syndrome have been identified …”