Childhood pilomatricomas: Associated anomalies

Abstract

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.

Pilomatrixomas in children: Report of 149 cases. A retrospective study at two children’s hospitals

“…I n t h e l a t e s t l i t e r a t u r e r e v i e w o f pilomatrixomas in children and in association with other abnormalities, 9 % of patients had multiple pilomatrixomas and, of them, 17 % had associated abnormalities. 8 The most frequent association was with Turner syndrome, followed by CMMR-D, Gardner syndrome, and Steinert muscular dystrophy. Single pilomatrixomas have also been reported with Kabuki syndrome.…”

“…There are no consensus or suggestions about the duration of follow-up in these patients, but it is important to obtain the complete personal and family history and conduct a complete physical exam to look for the signs of the syndromes associated with pilomatrixomas mentioned above. 8 It is worth noting that, during tumor resection or avulsion, capillary bleeding is observed that stops once all calcium is removed. This sign has been seen in all resections done in this study and has been designated as bleeding absence.…”

A tale of subcutaneous nodules, broad thumbs, supernumerary teeth, and intellectual disability in a patient

“…Turner syndrome was the most frequently reported genetic disorder associated with multiple pilomatricomas. Its characteristic clinical findings are: female patients only, pterygium coli, small height, delayed puberty, orthopedic anomalies, and heart defect, allowing diagnosis before the occurrence of pilomatricomas . CMMR‐D is an autosomal‐recessive characterized by multiple café‐au‐lait spots, signs of type 1 neurofibromatosis and a broad tumor spectrum including hematologic malignancies and brain and Lynch syndrome–associated tumors.…”

“…CMMR‐D is an autosomal‐recessive characterized by multiple café‐au‐lait spots, signs of type 1 neurofibromatosis and a broad tumor spectrum including hematologic malignancies and brain and Lynch syndrome–associated tumors. Patients with CMMR‐D usually develop multiple pilomatricomas before other malignancies . Gardner syndrome is a genetic disease caused by mutations in adenomatous polyposis coli (APC gene) with dysregulation of the beta‐catenin that could explain its association with pilomatricomas .…”

“…Patients with CMMR‐D usually develop multiple pilomatricomas before other malignancies . Gardner syndrome is a genetic disease caused by mutations in adenomatous polyposis coli (APC gene) with dysregulation of the beta‐catenin that could explain its association with pilomatricomas . Steiner's myotonic dystrophy, a genetic disease caused by mutations in the dystrophia myotonic protein kinase gene, induces a dysregulation in calcium homeostasis resulting in disorders of the epidermal differentiation and proliferation, which may explain its association with pilomatricomas .…”