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Disorders of Keratinization and Other Genodermatoses
Published in Ayşe Serap Karadağ, Lawrence Charles Parish, Jordan V. Wang, Roxburgh's Common Skin Diseases, 2022
Roselyn Stanger, Nanette Silverberg
Clinical presentation: There are three key features associated with this disorder. Patients have café au lait macules, such as those found in patients with neurofibromatosis. Classically, the borders of the lesions are jagged, and their appearance has been referred to as the “coast of Maine.” Second, patients have abnormal skeletal findings, including polyostotic fibrous dysplasia, which can lead to fractures, bone pain, gait abnormalities, skeletal deformities, and malignant degeneration. Third, patients have endocrinologic abnormalities, such as precocious puberty, hypophosphatemic rickets, and Cushing syndrome.
McCune−Albright Syndrome
Published in Dongyou Liu, Handbook of Tumor Syndromes, 2020
Representing one type of fibro-osseous lesions that are characterized by the excessive proliferation of cellular fibrous connective tissue containing foci of mineralization and irregular bony trabeculae that replace normal bone, fibrous dysplasia may affect a single bone (monostotic, particularly the cranium) or multiple bones (polyostotic, especially the femur, tibia, ribs, and facial bones) [4]. Polyostotic fibrous dysplasia has abnormal areas (lesions) in multiple bones confined to one side of the body. Replacement of bone with fibrous tissue often leads to fractures, uneven growth, and deformity (e.g., asymmetric growth of the face or leg, and abnormal curvature of the spine or scoliosis) as well as bone cancer (<1% of MAS cases) [5–7]. Apart from MAS, fibrous dysplasia also occurs in Mazabraud syndrome and Jaffe−Lichtenstein syndrome (Table 44.1).
The locomotor system
Published in C. Simon Herrington, Muir's Textbook of Pathology, 2020
This benign abnormality of bone may affect one or several bones. Most patients present in childhood, although new lesions may develop after puberty. The ribs, jaw, femur, and tibia are common sites. Increasing deformity and multiple fractures may occur, although lesions usually cease to grow at puberty. Malignant change is rare in the absence of radiation therapy. Fibrous dysplasia consists of white gritty fibrous tissue, occasionally with cysts and nodules of cartilage. Histologically, loose, spindle-celled, fibrous stroma contains scattered curving ‘lobster-claw’ trabeculae of woven bone (Figure 13.29). These are not arranged along stress lines and sometimes give rise to a ‘ground-glass’ appearance on radiology. Osteoblasts are not present on the surfaces of trabeculae as they are formed by metaplasia from the stroma. The triad of polyostotic fibrous dysplasia (multiple bone involvement), patchy skin pigmentation, and precocious puberty is referred to as McCune–Albright syndrome, a condition more common in females. A large proportion of cases of fibrous dysplasia contain mutations of the GNAS gene, which codes for an ADP-dependent G protein. These can also be seen in McCune–Albright syndrome.
A case of recurrent pigmented macules in Laugier-Hunziker syndrome treated using a Q-switched Nd-YAG laser
Published in Journal of Cosmetic and Laser Therapy, 2019
Myoung Eun Choi, Chang Jin Jung, Woo Jin Lee, Chong Hyun Won, Sung Eun Chang, Mi Woo Lee, Jee Ho Choi, Seung Hwan Paik
The differential diagnosis of multiple mucosal pigmentations includes Peutz-Jeghers syndrome, Addison’s disease, McCune-Albright syndrome and neurofibromatosis (1). A variety of drugs such as minocycline, phenothiazines, ketoconazole, oral contraceptives, zidovudine and chemotherapeutic agents can induce hyperpigmentation in the oral cavity (1,2). Ruling out Peutz-Jeghers syndrome requires STK11 gene testing or a gastrointestinal endoscopy since patients with this condition are at a high risk of gastrointestinal cancer (1). The pigmentation associated with Peutz-Jehgers syndrome typically occurs in childhood and nail involvement is rare. Addison’s disease is associated with a low production of cortisol and aldosterone and can be ruled out by measuring the serum levels of cortisol and ACTH in addition to assessing clinical symptoms including fatigue, weakness, loss of weight, and gastrointestinal disturbances. McCune-Albright syndrome is characterized by unilateral café au lait spots, precocious puberty and polyostotic fibrous dysplasia (2).
Utility of intraoperative computed tomography for cochlear implantation in patients with difficult anatomy
Published in Cochlear Implants International, 2018
Christine S. Kim, Alice Z. Maxfield, David Foyt, Robert J. Rapoport
To our knowledge, this report is the first to include both children with congenital malformation and adults with acquired inner ear abnormality to describe the use of intraoperative CT in cases of challenging cochlear implantation. It is also the first to describe a case in which both intraoperative C-arm fluoroscopy and CT were obtained, allowing comparison of the images and illustrating the value of the details one can obtain from the CT. We also introduce a case in which an image-guided navigation system was used to successfully implant a case of polyostotic fibrous dysplasia. Although widely implemented in the field of endoscopic sinus and skull base surgery, image-guided navigation system is only starting to be evaluated for feasibility in otologic cases. As it may prove to be useful, future studies are expected.
Immediate allograft reconstruction of the infraorbital nerve following resection of polyostotic fibrous dysplasia lesion
Published in Case Reports in Plastic Surgery and Hand Surgery, 2021
Abelardo Medina, Ignacio Velasco Martinez, Quynh Nguyen
Fibrous dysplasia (FD) is an uncommon, benign skeletal disorder where normal bone is replaced with fibro-osseous tissue that can result in significant physical impairment [1]. FD arises due to postzygotic somatic activating mutations in the GNAS1 gene, which encodes the alpha subunit of the stimulatory G protein. Polyostotic fibrous dysplasia (PFD) is a form of FD affecting more than one skeletal site and comprises 15–30% of all FD cases [2,3]. PFD typically calls for conservative management such as bone contouring surgery due to the high rate of disease recurrence. However, in cases of PFD causing severe maxillofacial deformity, complete resection and reconstructive surgery may be considered [2,4].