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Proteus syndrome is a rare hamartomous disorder with highly variable manifestations of disproportionate overgrowth of body parts, epidermal nevi and vascular malformations. We describe two patients who had typical clinical and imaging Proteus syndrome features. One of most characteristic findings in these two patients was that they had giant hemangiomas of the spleen that caused Kasabach-Merritt syndrome, demonstrating clinical bleeding and disseminated intravascular coagulation laboratory alterations. The present two cases are the first report of this complication in Proteus syndrome. The patients' bleeding tendency and hemostatic defects were completely corrected after they successfully underwent splenectomy.
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PMID:Kasabach-Merritt syndrome caused by giant hemangiomas of the spleen in patients with Proteus syndrome. 1758 27

The aetiology of Proteus syndrome (PS) is yet unclear. This disease includes partial gigantism of the hands and/or feet, nevi, hemihypertrophy due to overgrowth of long bones, subcutaneous tumours, macrocephaly, cranial hyperostosis, and pulmonary and renal abnormalities. This case report is about a 17-year-old boy with two uncommon findings associated with PS: apnoea-hypopnoea and mandibular retrusion. A multidisciplinary team was important to provide professional care for this patient. Dentists and physicians proposed an adjusted treatment plan. Maxillary disjunction was achieved with a combination of orthodontic treatment and surgical procedure. This represented the initial care for malocclusion treatment and also the preparation for orthognathic surgery. The oral maxillofacial surgeon and the otorhinolaryngologist proposed this approach in an attempt to improve pharynx airflow. The patient has been followed for almost 3 years.
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PMID:Apnoea-hypopnoea and mandibular retrusion as uncommon findings associated with Proteus syndrome. 1769 9

We present a series of seven patients who were previously diagnosed with Proteus syndrome, but who do not meet published diagnostic criteria for this disorder and whose natural history is distinct from that of Proteus syndrome. This newly recognized phenotype comprises progressive, complex, and mixed truncal vascular malformations, dysregulated adipose tissue, varying degrees of scoliosis, and enlarged bony structures without progressive bony overgrowth. We have named this condition congenital lipomatous overgrowth, vascular malformations, and epidermal nevi (CLOVE syndrome) on a heuristic basis. In contrast to the bony distortion so characteristic of Proteus syndrome, distortion in CLOVE syndrome occurs only following major or radical surgery. Here, we contrast differences and similarities of CLOVE syndrome to Proteus syndrome.
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PMID:Newly delineated syndrome of congenital lipomatous overgrowth, vascular malformations, and epidermal nevi (CLOVE syndrome) in seven patients. 1796 21

Proteus syndrome is a multisystem disorder and diagnosis has been difficult because of the variability of the syndrome's manifestations. Dermatologists have an important role as cutaneous findings could provide clues for the early diagnosis of the disease. Herein we report a case who had cerebriform connective tissue nevus and lipoma as the sole manifestations of the disease.
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PMID:A mild form of Proteus syndrome. 1803 95

Isolated plantar cerebriform collagenomas are a relatively rare type of connective tissue nevus. They have been suggested to be pathognomonic of Proteus syndrome. However, their presence is now considered to be a major criterion of Proteus syndrome, but the diagnosis of Proteus syndrome also requires the presence of other minor criteria. We present an unusual case of an acquired plantar cerebriform collagenoma, which is not associated with Proteus syndrome. Collagenomas, or connective tissue nevi of the collagen type, represent a hamartomatous overgrowth of normal collagen. Isolated plantar collagenoma is rare, and most commonly presents in childhood. We report an interesting case of an isolated plantar cerebriform collagenoma in an adult.
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PMID:Isolated plantar collagenoma not associated with Proteus syndrome. 1828 Mar 50

The term "epidermal nevus syndrome" (ENS) has been used to describe the association of epidermal hamartomas and extra-cutaneous abnormalities. Epidermal nevi follow the lines of Blaschko. The majority of the extra-cutaneous manifestations involve the brain, eye, and skeletal systems. Several subsets with characteristic features have been delineated including the nevus sebaceous syndrome, Proteus syndrome, CHILD syndrome, Becker nevus syndrome, nevus comedonicus syndrome, and phakomatosis pigmentokeratotica. Epidermal nevi have been associated with benign and malignant neoplasms. Advances in molecular biology have revealed that the manifestations of ENS are due to genomic mosaicism. It is likely that the varied clinical manifestations of ENS are due in great part to the functional effects of specific genetic defects. Optimal management of the patient with ENS involves an interdisciplinary approach. Amelioration of the cutaneous features of ENS has been difficult but there have been advances, especially in the use of lasers.
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PMID:Epidermal nevus syndromes. 1839 70

Proteus syndrome is a rare, complex disorder predominantly characterized by asymmetric overgrowth of body parts, connective tissue and epidermal nevi, and vascular malformations. General diagnostic criteria comprise mosaic distribution, sporadic occurrence, and progressive course. We report on Proteus syndrome in discordant monozygotic twins. The affected 9-year-old boy showed progressive postnatal overgrowth of his right leg and foot and asymmetric progressive overgrowth of single toes with a small cerebriform connective tissue nevus on his right fourth toe. The progressive course was documented by serial photographs over a period of 3 years. Twin monozygosity was determined by PCR-amplified short tandem repeat (STR) analysis, revealing complete concordance of all alleles in both twins. This observation, to our knowledge, is only the second case report of discordant Proteus syndrome in monozygotic twins. This supports the hypothesis that this rare condition is caused by a postzygotic mutational event resulting in mosaicism.
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PMID:Monozygotic twins discordant for Proteus syndrome. 1862 57

Proteus syndrome is a complex and highly variable disorder comprising malformations and overgrowth of multiple tissues. We present a 65-year-old Japanese man who had multiple spinal meningiomas and accompanying neural symptoms. His right leg showed hypertrophy with cerebriform connective-tissue naevus on the sole, and macrodactyly. Chest computed tomography imaging revealed mild cystic and emphysematous lung changes, which were possibly related to Proteus syndrome. Otherwise, he had no particular cutaneous, musculoskeletal or visceral involvements. Because of the rather insignificant clinical features, he had not been accurately diagnosed in the past and yet had survived to this age. In particular, the presence of spinal meningiomas as an exceptional complication was sufficiently confusing to consider that he had neurofibromatosis. Doctors should be familiar with the diverse clinical pictures of this rare syndrome for its correct diagnosis and proper management.
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PMID:Proteus syndrome complicated by multiple spinal meningiomas. 1868 77

Proteus syndrome is an extremely rare congenital disorder with progressive asymmetric overgrowth of multiple tissues. The etiology is unknown to date. The aim of this article was to describe the clinical and radiographic periodontal findings and other oral manifestations in a patient with Proteus syndrome. A 13-year-old Caucasian Brazilian girl with Proteus syndrome was evaluated by means of clinical examination and full-mouth intraoral radiographic analysis. The patient showed skeletal malformations; gigantism; facial phenotype; and overgrowth of multiple tissues, including disproportionate overgrowth of skull, left hand, and lower limbs. Evaluation of the plantar surface of the left foot showed cerebriform connective nevus. The hands also showed reduced range of motion. Intraoral examination revealed enamel hypoplasia of permanent teeth restricted to the left side of the mouth, generalized gingival overgrowth, abundant dental plaque, and malpositioned teeth. Neither periodontal pockets nor alveolar bone destruction were detected. In conclusion, oral manifestations of Proteus syndrome may include gingival overgrowth and malposition of teeth, as well as unilateral enamel hypoplasia, as shown in this case report.
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PMID:Periodontal findings and other oral manifestations in Proteus syndrome: a case report. 1908 99

A case of bladder hemangiomas in association with Proteus syndrome (PS) is described. PS is a rare hamartomatous disorder and comprises an association of verrucous epidermal nevi, infantile hemangiomas, lipoma-like subcutaneous hamartomas and asymmetrical overgrowth of almost any part of the body. To our knowledge, this is the second case reported of hematuria associated with bladder hemangiomas in PS.
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PMID:Bladder hemangiomas and Proteus syndrome: a rare clinical association. 2017 31


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