Rapidly growing collagenomas in multiple endocrine neoplasia type I

Patients with multiple endocrine neoplasia type I (MEN-I) frequently develop skin lesions including collagenomas, angiofibromas, and lipomas. We report a patient with MEN-I who exhibited rapid growth of multiple collagenomas after pancreatic enucleation of a vasoactive intestinal peptide-secreting tumor (VIPoma) and excision of multiple pancreatic masses. Five of the collagenomas were protuberant, with the bulk of the lesion protruding above the skin. Histologic analysis of the collagenomas revealed broad collagen bundles in a haphazard arrangement and decreased elastic fibers. Rapid growth of protuberant collagenomas appears to be unusual in MEN-I, but we suggest that MEN-I be considered in patients with apparent eruptive collagenoma.     

Multiple endocrine neoplasia type 1 presenting as rosacea

We present a ease of malignant carcinoid initially diagnosed as rosacea. This patient was later found to have an additional functioning parathyroid tumour. Although a pituitary tumour was nor identified, the association represents a probable case of multiple endocrine neoplasia type 1 (MEN 1). This autosomal dominant syndrome is characterized by tumours of the pancreas, parathyroid and pituitary. Inoperable carcinoid rumour is best treated with a long-acting somatostatin analogue, octreotide. A diagnosis of MKN I has important connotations for the proband's first-degree relatives, who should be entered into an appropriate screening programme.     

Cutaneous lesions associated to multiple endocrine neoplasia syndrome type 1

Background  Multiple endocrine neoplasia type 1 (MEN1) is a genetic disease that predisposes to endocrine tumour development. Some cutaneous lesions (angiofibromas, collagenomas, melanosis guttaca, lipomas, melanomas, 'cafe au lait macules') have been associated to this syndrome. We compare the prevalence of cutaneous lesion in affected patients with their non-carrier relatives.
Patients and method  We studied 9 patients with MEN1 and 20 non-carrier, first-degree relatives. Genetic screening was realized in all of them. Patients were examined by dermatologist, and biopsy was performed when necessary.
Results  Patients with MEN1 presented hyperparathyroidism (100%), neuroendocrine tumours of pancreas (66%) and pituitary adenomas (44%); their relatives were free of endocrine features of MEN1. The studied cutaneous lesions were more prevalent in affected patients than in non-carriers (55.5% vs. 25%; P  = 0.029). Odds ratio of developing cutaneous lesions in MEN1 patients was 6.6 (95% confidence interval, 1.09–40.43). The frequency of angiofibromas was lower (22.2%) than the reported in other studies (43–88%), and we did not find any collagenoma.
Conclusions  MEN1 is associated to some cutaneous lesions and could be useful for detecting MEN1 carriers in an affected family. Cutaneous lesions should be assessed in MEN1 patients.     

Cutaneous neuropathology in multiple endocrine neoplasia, type 2b

Increase in masses of mixed (myelinated and nonmyelinated) nerve are observed in the dermis of clinically normal skin of patients with multiple endocrine neoplasia, type 2b (MEN 2b). Preliminary histochemical studies revealed nucleoside triphosphatase and nonspecific acid esterase. Electron microscopy showed axonal organelles, mild degeneration of axons, and numerous axons unassociated with Schwann cells. The normal-appearing skin in MEN 2b seems to contain abnormal nerve tissue development equally with the mucosal and the gastrointestinal tract.     

Multiple endocrine neoplasia type 2b associated with lichen nitidus

Multiple endocrine neoplasia (MEN) type 2B syndrome is an autosomal dominantly inherited endocrine disorder with rare skin manifestations. We report the case of a 19-year-old Turkish girl who presented with skin-colored flat papules scattered all over the trunk and extremities. Additionally, she had marfanoid habitus, thick lips, and multiple flesh-colored papules over the inner eyelids and oral mucosa. Histopathological examination of one of the trunk lesions was consistent with lichen nitidus. Her past medical history was significant for medullary thyroid carcinoma. Genetic testing showed a point mutation in exon 16 at codon 918 (M918T) in the RET proto-oncogene. Based on all these findings, MEN type 2B was diagnosed. To the best of our knowledge we report the first case of MEN type 2B associated with lichen nitidus.     

Not just skin deep: a case report of multiple endocrine neoplasia type 1

Multiple endrocrine neoplasia (MEN) type 1 is characterized by mainly a triad of pancreatic, pituitary and parathyroid involvement. This is a case report of a 41-year-old male in whom recognition of collagenoma and gingival papule led to the identification of MEN type 1. Often the recognition of such dermatological manifestations help in the presymptomatic diagnosis of complex syndromes.     

Familial cutaneous collagenomas resulting from a novel mutation in LEMD3

BACKGROUND: The MDM2 oncoprotein promotes cell survival and cell cycle progression by inhibiting the p53 tumour suppressor protein. Further, overexpression of the MDM2 gene can inhibit DNA double-strand break repair in a p53-independent manner. Recent studies have shown that a single nucleotide polymorphism (SNP) in the intronic promoter region of MDM2 (called SNP309) can significantly change the expression of MDM2 and thereby suppress the p53 pathway. This SNP was also found to be associated with the onset and risk of different cancer types. Basal cell carcinoma of the skin (BCC) is one of the most common neoplasms in the world. BCC development is associated with environmental factors (especially sun exposure) as well as heritable factors. OBJECTIVES: The present case-control study investigated the association of the MDM2 SNP309 with the risk and the age at onset of BCC. Methods Data from 509 individuals affected by BCC and 513 healthy controls were genotyped with TaqMan polymerase chain reaction. RESULTS: Cases and controls showed a similar genotype distribution and the SNP did not modify the age at onset of BCC. CONCLUSIONS: These results suggest that the MDM2 SNP309 alone affects neither the risk nor the age at onset of BCC.     

Cutaneous macular amyloidosis associated with multiple endocrine neoplasia 2A

Cutaneous amyloidosis and multiple endocrine neoplasia 2A (MEN 2A) have been previously reported in several families. A genetic linkage of both disorders has recently been described. Notalgia paraesthetica has been suggested to be involved in the aetiology of amyloidosis in such patients. We report such an association in a 48-year-old woman with several relatives suffering from MEN 2A. Treatment with topical capsaicin, which has been shown to be effective in notalgia paraesthetica, was not useful in our patient.     

Paresthetic notalgia and multiple endocrine neoplasia type 2a (Sipple's syndrome): 3 cases]

INTRODUCTION: Notalgia paresthetica is an isolated sensory mononeuropathy. Patients have a pruritus in the mid-upper back. Its association with multiple endocrine neoplasia type IIA has been reported in a few cases. We report three cases of this association. CASE REPORTS: Case n(o) 1: A 45 year-old woman had multiple endocrine neoplasia type IIA with a medullary thyroid carcinoma and a primary hyperparathyroidism; she had a mid-upper back pigmented lesion. Histological examination showed dermal melanosis and deposits of amyloid in the dermis. Case n(o) 2: A woman had a multiple endocrine neoplasia type IIA which was diagnosed at the age of 60; she had a surgical treatment for a pheochromocytoma, a medullary thyroid carcinoma, and a primary hyperparathyroidism; she had dermatological examination for a pruriginous lesion of the mid-upper back. Case n(o) 3: The daughter of the patient n(o) 2 had had a surgical cure for a medullary thyroid carcinoma and a pheochromocytoma at the age of 31; she had a papulous and pruriginous lesion in the left scapular area. Her daughter and her sister had a multiple endocrine neoplasia type IIA without notalgia paresthetica. DISCUSSION: Notalgia paresthetica is a benign cutaneous disorder which can be associated with multiple endocrine neoplasia type IIA. It can be considered that notalgia paresthetica is an early clinical marker of multiple endocrine neoplasia type IIA. Patients with a familial history of notalgia paresthetica or with an onset of notalgia paresthetica in childhood should be screened for multiple endocrine neoplasia type IIA. Patients with multiple endocrine neoplasia must also been screened for notalgia paresthetica because its finding is an argument for a familial form of multiple endocrine neoplasia type IIA. Dermatologists should be aware of this association.     

Linear cutaneous neuromas (dermatoneurie en stries): a limited phakomatosis with striated pigmentation corresponding to cutaneous hyperneury (featuring multiple endocrine neoplasia syndrome?)

A 60-year-old woman developed a progressive linear pigmentation on the trunk. Skin biopsy demonstrated an increase in the number and size of neural fibers in the dermis. Clinical and paraclinical investigations of this unusual disease showed findings similar to the hereditary type of Sipple syndrome (multiple endocrine neoplasia syndrome, Type 2b). Such findings as Marfanoid habitus, abnormal electromyography and hypertrophy of the corneal nerves suggest that our patient's disease and Sipple syndrome are identical. However, such other symptoms of Sipple syndrome as presence of endocrine tumors are absent. Questions of long-term prognosis and physiopathogenicity are raised, since no nerve growth factor was detected in this patient. The name of linear cutaneous neuromas is suggested for the patient's lesions, and a possible association with the pigmentation and cutaneous neuromas of the MEN 2b syndrome.     

Neurocutaneous spectrum of multiple endocrine neoplasia-1

Multiple endocrine neoplasia type I or Wermer syndrome is characterized by primary hyperparathyroidism, enteropancreatic endocrine tumor, and a pituitary pathology. A 35-year-old male presented with visual field defects, hyperprolactinemia, and hypogonadism. He also had multiple infraumbilical skin-colored nodules. A syndromal association of Wermer syndrome was derived using the dermal, pituitary, parathyroid, and gastrointestinal hormonal manifestations of the tumor. The radiological and histological findings of lesion which underwent biopsy are discussed. The presence of collagenomas, lipomas, and hypopigmented macules in a patient with neuroendocrine symptoms should raise the suspicion of an underlying multiple endocrine neoplasia.     

Cutaneous leiomyosarcoma with myxoid alteration arising in a setting of multiple cutaneous smooth muscle neoplasms

Background:  Cutaneous leiomyomas and leiomyosarcomas are rare tumors that originate from the arrector muscle of hair follicles or the smooth muscle of blood vessels.
Case report:  A 74-year-old male presented with a single, erythematous nodule on the left upper arm. This lesion developed within the excision scar of a piloleiomyoma that had been excised 3 years ago. Additionally, physical examination revealed a tender nodule on the right ear.
Results:  Histological examination showed a cutaneous leiomyosarcoma with myxoid alteration on the upper arm and an angioleiomyoma on the right ear.
Conclusion:  Myxoid leiomyosarcomas have exclusively been reported in the uterus and gastrointestinal tract, but not in the skin. Here, we describe a case of cutaneous leiomyosarcoma with myxoid alteration that developed in the excision scar of a piloleiomyoma and was accompanied by a cutaneous angioleiomyoma in a different location.     

Athlete's nodules: sports-related connective tissue nevi of the collagen type (collagenomas).

Sports-related connective tissue nevi of the collagen type (collagenomas) have been referred to as athlete's nodules. Surfers, boxers, marbles players, and football players are some of the athletes in whom these lesions have been observed. The nodules can be found on the dorsal aspect of the feet, knees, or knuckles and can readily be differentiated from other conditions by either clinical history or microscopic features or both. Treatment options include conservative measures or surgical intervention. Recurrent trauma and friction to the involved location are likely causative factors. Although the ultrastructural pathogenesis remains to be established, changes in the molecular metabolism of collagen resulting in enhanced synthesis and/or accumulation of collagen may have a contributory role.