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 pilomatricomas and myotonic dystrophy in a patient with AIDS

We report a 43-year-old man with myotonic dystrophy who developed multiple pilomatricomas 2 years after being diagnosed as having AIDS. This is the first report of pilomatricomas developing in an HIV-1 seropositive patient.     

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.     

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.     

Multiple pilomatricoma in the context of previous seminoma: discussion on the possible relationship

Multiple pilomatricomas are rare. In the literature, they have been associated with many conditions, although the most common association is with myotonic dystrophy. We present a new association not previously described in the literature, observed in a 28-year-old male with three pilomatricomas, who had been diagnosed with seminoma 15 months before the current diagnosis of multiple pilomatricomas. Concerning the current association, as well as many of those described in the literature, we also discuss whether they might be more than mere coincidences, maybe explained by some molecular alterations.     

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 pilomatricomas associated with myotonic distrophy

Calcifying epithelioma of Malherbe, pilomatricoma, is a benign neoplasm of the skin, originating from primitive cells of the hair matrix, Myotonic dystrophy (Steinert's disease) is an uncommon hereditary disease characterized by myotonia, muscle wasting, cataracts, testicular atrophy and frontal baldness. We present the case of a woman with pilomatricomas and myotonic dystrophy and then we review the relationship between these two disorders.     

Pilomatricoma (Calcifying Epithelioma)

ABSTRACT: We found 100 cases of pilomatricoma by reviewing the files of the Department of Pathology of the National Medical Centre of El Salvador for a period of 58 months (January 1975 to October 1979). All diagnoses were confirmed by biopsies. The tumor was most frequent between 11 and 20 years of age. The mean age was 11.2 years, the youngest patient being of 1 year, 8 months and the oldest being 74. Both were boys. By sex, the feminine dominated with a ratio of 2.45 to 1 (71 % women and 29% men). In only two cases were the tumors multiple (two tumors in each one), and neither eruptive pilomatricomas nor association with other neoplasias or myotonic dystrophy were found. Most of the tumors occurred in the cephalic segment (29%)     

Childhood pilomatricomas: Associated anomalies

Pilomatricoma is a common benign tumor in children. We present a review of the literature with the aim of helping clinicians manage these patients. A detailed review of the literature was performed in the PubMed database using an exhaustive list of Medical Subject Heading words. One thousand four hundred fifty‐eight children were described in retrospective series and case reports. An associated disease was found in 32 children (2.2%), most of whom had several pilomatricomas (n = 23); 9 had a single lesion. Based on this literature review, we recommend reassuring the family and then conducting a detailed interview regarding past medical and family history and a thorough clinical examination for signs of Turner syndrome, constitutional mismatch repair deficiency, Kabuki syndrome, Steiner's myotonic dystrophy, or Gardner syndrome. Regular long‐term clinical follow‐up is recommended. Specific paraclinical examinations should be performed only in cases of other clinical anomalies or a positive family history. Pilomatricoma requires management because it may be associated with other potentially serious diseases, especially when multiple lesions are present.     

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.     

Multiple pilomatricomas in twins with Rubinstein-Taybi syndrome

Pilomatricomas are benign tumors originating from the capillary matrix, which may present as solitary lesions or, less commonly, multiple. Myotonic dystrophy and familial adenomatous polyposis are the most frequently associated disorders with multiple pilomatricomas. There are few reports relating these tumors to other genetic syndromes. Rubinstein-Taybi syndrome is a rare autosomal dominant disorder characterized by intellectual disability and typical dysmorphic characteristics. There are five case reports relating to multiple pilomatricoma to Rubinstein-Taybi syndrome, an association that needs to be clarified. For this reason, we report the first case of multiple pilomatricoma in monozygotic twins with typical Rubinstein-Taybi syndrome.     

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.     

Multiple Large Pilomatricomas in the Setting of Diffuse Epidermal Nevi

Abstract: Epidermal nevi are hamartomas arising from the embryonic ectoderm during early embryonic stages, resulting in cutaneous mosaicism. We describe a patient with diffuse epidermal nevi and multiple large pilomatricomas arising near or within epidermal nevi.     

Multiple Pilomatricomas in Kabuki Syndrome

Abstract: Pilomatricoma is a benign tumor of the hair matrix cell that presents predominantly in childhood. Although pilomatricoma occurs spontaneously, multiple pilomatricomas have been described in association with several inherited syndromes. We report on a 28‐year‐old man with Kabuki syndrome with three pilomatricomas in his head and thigh. Although several reports describe multiple pilomatricomas associated with Turner syndrome, there are no reports of multiple pilomatricomas combined with Kabuki syndrome. Ectodermal abnormalities such as hair abnormality and hirsutism are symptoms of Kabuki syndrome, and pilomatricomas are frequently associated with the mutations of beta‐catenin in hair follicle development. The predisposition of pilomatricomas may be not merely a coincidental finding, but an added association with Kabuki syndrome.     

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     

Multiple Familial Pilomatrixomas in Three Generations: An Unusual Clinical Picture

Pilomatrixomas are benign cutaneous tumors derived from hair matrix cells of unclear etiology. Pilomatrixomas commonly demonstrate somatic mutations in CTNNB1, a gene coding β‐catenin, a protein involved with hair follicle development. Multiple familial pilomatrixomas rarely occur and are most often associated with autosomal dominant conditions such as myotonic dystrophy and familial adenomatous polyposis (FAP). Nine families with multiple familial pilomatrixomas and no demonstrable underlying association have been reported in the literature. We present a tenth family in which five members spanning three generations grew multiple pilomatrixomas in the absence of any previously reported associations. No evidence of myotonic dystrophy, FAP, or other known associations was found. Extreme tiredness, behavioral problems, and sensory disturbances were common features across three generations but bore no temporal relation to the pilomatrixomas. The existence of a germline mutation in CTNNB1 to explain these symptoms has yet to be shown. Pilomatrixomas are potentially cutaneous markers of significant underlying pathologies. Patients presenting with multiple or familial pilomatrixomas should be thoroughly assessed for other pathologies and offered genetic screening to ensure that important diagnoses are not overlooked.     

Three cases of androgen-dependent disease associated with myotonic dystrophy

Three cases of androgen-dependent disease in females with myotonic dystrophy are described. Serum androgens in individuals affected by myotonic dystrophy are known to be lower on average than in normal controls. Despite this these three females developed diseases that are androgen dependent, including acne, hidradenitis suppurativa, androgenetic alopecia and keratosis pilaris. These cases support the hypothesis that the peripheral response to androgens rather than absolute circulating levels of androgens is important in androgen-dependent conditions.     

Multiple Eruptive Pilomatricomas in a 9‐year‐Old Boy with Glioblastoma

Abstract: A 9‐year‐old male presented to our dermatology clinic with a recent history of developing numerous cutaneous pilomatricomas, and was subsequently discovered to have sustained a recurrence of his glioblastoma multiforme. Immunohistochemical staining of a representative pilomatricoma and his original brain tumor revealed upregulation and nuclear localization of beta‐catenin, a sign associated with poor prognosis in glioblastoma. We hypothesize that the development of multiple pilomatricomas may have been a hallmark of this patient's tumor recurrence and provide support for a recent report of an association between multiple pilomatricomas and gliomatosis cerebri.     

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.