Familial multiple pilomatrixomas as a presentation of attenuated adenomatosis polyposis coli

Pilomatrixomas are benign follicular tumors that occur most commonly in children. Rare multiple or familial pilomatrixomas have been associated with myotonic dystrophy and other disorders. Although sporadic pilomatrixomas and hybrid cutaneous cysts with pilomatrixoma-like features have been observed in some kindreds with Gardner syndrome, an autosomal dominant form of familial adenomatous polyposis, no definitive association has been made with multiple or familial pilomatrixomas. Here we describe two siblings with multiple pilomatrixomas who were also found to have a family history of colonic adenocarcinoma. Genetic testing revealed a mutation in the 5' portion of the adenomatous polyposis coli (APC) gene, in a region associated with an attenuated APC phenotype. These findings show that multiple pilomatrixomas may be the presenting symptom of patients with APC gene mutations.     

Two cases of pilomatrixoma in Turner's syndrome

Multiple and familial cases of pilomatrixomas have been reported in myotonic dystrophy. We report 2 cases of pilomatrixoma in Turner's syndrome. Between 5 and 19 years of age, 1 patient developed 6 pilomatrixomas including atypical occurrences on the chest and the posterior aspect of the leg. This is the first report of multiple pilomatrixomas in Turner's syndrome. Copyright (R) 2000 S.Karger AG, Basel     

Simultaneous multiple pilomatrixomas

We report a 10-year-old girl with synchronous multiple pilomatrixomas. Pilomatrixomas are generally solitary tumors; synchronous multiple tumors are very rare. Multiple or recurring tumors may be found in association with various syndromes, and multiple tumors may be familial. Concurrent disorders were not identified in our patient and the etiology of her pilomatrixomas was not understood. Thorough examination of the patient and long-term follow-up are necessary with these tumors.     

Multiple familial pilomatricomas: an unusual case

Although solitary pilomatricomas are relatively common, multiple pilomatricomas occur rarely, in 2-3.5% of reported cases. The majority of cases of familial multiple pilomatricomas occur in association with myotonic dystrophy. The occurrence of multiple familial pilomatricomas in patients who are otherwise well is extremely rare. We describe a 29-year-old man with multiple pilomatricomas whose father and brother also had similar lesions. There is no history of myotonic dystrophy.     

Multiple pilomatrixomas in children: the need for long‐term follow‐up and aesthetically sensitive incisions

Pilomatrixomas are benign, calcified epitheliomas of the hair follicle, predominately affecting children and commonly presenting in the head and neck region. The current literature is almost unanimous in recommending surgical excision. Reconstruction of these defects may require the need for a skin graft, resulting in poor cosmetic outcome and donor site morbidity. We present two cases demonstrating the benefits of minimal access incisions for pilomatrixomas in children. We recommend that multiple or recurrent lesions should prompt referral to a specialist for management and long‐term follow‐up.     

Multiple Pilomatricomas and Gliomatosis Cerebri—A New Association?

Abstract:   Pilomatricomas are benign skin tumors originating from hair follicle matrix cells. In 2% to 3.5% of cases they occur in multiplicity and then may be associated with genetic diseases, such as myotonic dystrophy Curschmann–Steinert, familial adenomatous polyposis (Gardner syndrome), and Rubinstein–Taybi syndrome. A 15-year-old boy treated with temozolomide and oxcarbazepine for gliomatosis cerebri with symptomatic epilepsy developed four firm cutaneous nodules on his face and right upper arm in the course of 1 year. All four tumors were excised under local anesthesia. Histological examination confirmed the clinical diagnosis of pilomatricomas. This is the first published case of a patient suffering from gliomatosis cerebri and developing multiple pilomatricomas. Whether this observation represents a new association or is a mere coincidence cannot be clarified at present.     

Multiple pigmentierte Basaliome im Capillitium bei Myotonia dystrophia Curschmann-Steinert Bestätigung einer seltenen Symptomenkonstellation

A 50-year-old woman presented with myotonic dystrophy (Curschmann-Steinert disease) and multiple pigmented basal cell carcinomas of the scalp. She also had typical androgenetic alopecia seen in this disorder. In 1986 Stieler and Plewig described the first patient with myotonic dystrophy and multiple basal cell carcinomas. There may be a genetic predisposition for cutaneous tumors with follicular origin, as multiple pilomatricomas also occur frequently in such patients.     

Pilomatrix carcinomas contain mutations in CTNNB1, the gene encoding beta-catenin

Mutations in beta-catenin are present in benign pilomatrixomas. beta-catenin is a downstream effector in the WNT-signalling pathway, acting as a signal for differentiation and proliferation. Mutations in CTNNB1, the gene encoding beta-catenin, are present in a wide variety of benign and malignant neoplasms. We examined beta-catenin in a series of pilomatrix carcinomas (15 cases) by using immunohistochemistry and DNA sequencing of exon 3 from CTNNB1, and compared these to a series of benign pilomatrixomas (13 cases). All 11 pilomatrix carcinomas available for examination showed nuclear localization of beta-catenin and mutations in exon 3 similar to those demonstrated in benign pilomatrixomas. Two of 11 pilomatrix carcinomas showed significant nuclear accumulation of p53, whereas this was absent in all 13 benign pilomatrixomas. Expression of nuclear cyclin D1 was similar in both benign pilomatrixomas and pilomatrix carcinomas. Clinical follow-up from the 15 malignant cases reported in this study and by others indicates that wide excision offers superior control of local recurrence, compared to simple excision. Immunohistochemical and molecular analysis of beta-catenin reveals that both pilomatrix carcinomas and benign pilomatrixomas harbour mutations in beta-catenin. This implies a common initial pathogenesis and is compatible with the proposition that pilomatrix carcinomas may at least on occasion arise from their benign counterparts.     

Multiple pilomatricomas: report of two cases and review of the association with myotonic dystrophy.

Two patients are reported who experienced multiple pilomatricomas beginning in childhood. Although one patient had no evidence of associated diseases, the second patient was diagnosed with myotonic dystrophy subsequent to the onset of the pilomatricomas. Previous reports of multiple pilomatricomas and the association with myotonic dystrophy are reviewed.     

Pilomatrical neoplasms in children and young adults.

Pilomatrixoma, a neoplasm of hair germ matrix origin, is one of the most common cutaneous appendage tumors in patients 20 years of age or younger. Our review of cutaneous adnexal tumors in the first 2 decades of life showed that pilomatric lesions accounted for approximately 75% of cases. We examined 76 tumors from 69 patients between the ages of 8 months and 19 years (average age, 8 years). The female-to-male ratio was 3:1. We noted a predilection for the head and neck region, as has also been reported by other investigators. Sixty-nine tumors were examples of typical or classic pilomatrixoma; four of them showed the unusual histologic feature of transepidermal elimination or perforation. None of the tumors in the typical category recurred during a follow-up period that averaged 8.7 years. Seven of the lesions with atypical histologic features were examples of aggressive pilomatrixoma (three cases) and pilomatrical carcinoma (four cases). The average age of these seven patients was similar to that of the overall group. The pilomatrical carcinomas were characterized by invasive nests of tumor cells with irregular borders, large vesicular nuclei, prominent nucleoli, multiple mitotic figures, and focal necrosis. A desmoplastic stroma surrounded the infiltrating nests of tumor. Two of the four pilomatrical carcinomas recurred 2 and 6 months, respectively, after initial excision. The aggressive pilomatrixomas had a similar infiltrative growth pattern, but they did not exhibit the same degree of worrisome cytologic features. Single cell necrosis, identifiable mitotic figures, and prominent nucleoli differentiated the atypical from the typical pilomatrixomas. One of the three aggressive pilomatrixomas recurred after 2 months.(ABSTRACT TRUNCATED AT 250 WORDS)     

Association between basal, squamous cell carcinomas, dysplastic nevi and myotonic muscular dystrophy indicates an important role of RNA-binding proteins in development of human skin cancer

Myotonic muscular dystrophy (MMD) is caused by an abnormal function of RNA-binding proteins (RBP) resulting in DNA spliceopathy. A case of a patient, with MMD multiple basal and squamous cell carcinomas and dysplastic nevi, is described. The association between MMD and non-melanoma skin cancer has been reported before; however, this association was described before the genetic defect of myotonic dystrophy has been fully elucidated. The author proposes a genetic mechanism on how abnormal function of RBP can result or contribute to the development of human skin cancer and propose an explanation for this association between MMD and cutaneous carcinogenesis.     

Familial cervical hypertrichosis with underlying kyphoscoliosis

A family with congenital localized hypertrichosis transmitted in an autosomal dominant pattern is presented. The excessive hair growth was localized to the cervical region and was associated with underlying kyphoscoliosis. No additional cutaneous or skeletal abnormalities were identified. To our knowledge these are the first cases of familial congenital cervical hypertrichosis associated with underlying kyphoscoliosis reported in the literature.     

Multiple basaliomas in Curschmann-Steinert myotonia atrophica

The occurrence of multiple basal-cell epitheliomas in connection with myotonic dystrophy has not previously been reported. The possibility of myotonic dystrophy being a predisposing factor for different kinds of neoplasms is discussed.     

Use of ultrasonography in the diagnosis of childhood pilomatrixoma

Pilomatrixomas are relatively common childhood tumors that usually occur in the head and neck region. The clinical diagnosis of these lesions may be difficult, especially if the examining physician is unfamiliar with them. Excision is usually recommended, as a foreign body reaction due to calcification of the lesion may occur and cause a vigorous inflammatory response with risk of scarring. A retrospective study was carried out by examining the preoperative ultrasound scans of 28 suspected pilomatrixomas in 25 children. The findings on sonography were correlated with the histologic results in 19 cases (18 pilomatrixomas and one ruptured epidermoid cyst). In the majority of patients, sonography either correctly supported or excluded the clinical diagnosis of pilomatrixoma and contributed to appropriate preoperative assessment and subsequent management of the lesion. We therefore found sonography of suspected pilomatrixomas in children to be a useful and noninvasive procedure, offering a significant improvement in the accurate diagnosis of these lesions.     

Pilomatrix carcinoma and multiple pilomatrixomas

Summary Pilomatrixoma is the only skin appendage tumour showing predominantly hair matrix differentiation. Rarely, aggressive or malignant variants are reported in the literature. We report a case of a 44-year-old male with multiple pilomatrixomas. one of which grew rapidly, recurring several times. Histological examination of this tumour showed predominantly hair matrix differentiation but also abortive hair follicle formation with pilar keratinization reminiscent of a trichoepitholioma. Numerous mitoses and moderate cellular pleomorphism were present, associated with infiltration of subcutaneous skeletal muscle and vascular invasion.     

Myotonic dystrophy (Steinert disease): a morphologic and biochemical hair study

BACKGROUND: Myotonic dystrophy is a systemic genetic disorder, with dominant transmittance. It is characterized by generalized progressive muscular abnormality. Although frontoparietal alopecia is one of the most common symptoms in myotonic dystrophy, it has not received much attention. METHODS: We examined 25 subjects from two families: 10 patients were affected by Steinert disease and 15 were not. The various morphologic and biochemical hair alterations are reported. RESULTS: All investigated subjects (affected or not) presented the same type of morphologic and biochemical hair alterations. CONCLUSIONS: These findings could be used to construct a hypothesis to explain the cause of the disease.     

Multiple familial pilomatricomas: a cutaneous marker for myotonic dystrophy

4 members of the same family with association of multiple pilomatricomas and myotonic dystrophy are described. A muscular electron microscopic study and the electromyographic findings are reported.     

Familial multiple eccrine spiradenomas with cylindromatous features associated with epithelioma adenoides cysticum of Brooke

Four cases of rare familial multiple eccrine spiradenomas showing features of dermal cylindromas and associated with epithelioma adenoides cysticum of Brooke are reported. Skin biopsy specimens were obtained from three generations of this family and routine histochemical and immunoperoxidase stains were used. The eldest affected family member had multiple disfiguring facial and scalp tumors, which precipitated episodes of depression. Unlike other cutaneous genetic disorders, such as neurofibromatosis and tuberous sclerosis, the cutaneous adnexal tumors occurring in these patients continue to erupt and grow during their lifetimes.