Subject(s)
Tattooing , Tinea/etiology , Exanthema/etiology , Humans , Male , Middle Aged , Tinea/diagnosis , Tinea/drug therapy , Tinea Pedis/complicationsSubject(s)
Gadolinium/adverse effects , Laser Therapy/methods , Mass Spectrometry/methods , Nephrogenic Fibrosing Dermopathy/pathology , Biopsy, Needle , Female , Follow-Up Studies , Humans , Immunohistochemistry , Kidney Failure, Chronic/diagnostic imaging , Kidney Failure, Chronic/physiopathology , Middle Aged , Nephrogenic Fibrosing Dermopathy/diagnostic imaging , Nephrogenic Fibrosing Dermopathy/etiology , Nephrogenic Fibrosing Dermopathy/surgery , Photomicrography , Risk Assessment , Treatment OutcomeABSTRACT
We report the successful treatment of multiple facial milia with manual extraction and tretinoin in a child with orofaciodigital syndrome type 1. Treatment with topical medications may be insufficient in individuals with orofaciodigital syndrome type 1, and pitted scarring is often a sequala. This case demonstrates that manual extraction is well tolerated and effective in the treatment of multiple milia. In addition, clinicians need to be aware of this rare genetic condition, which commonly presents de novo and can lead to significant morbidity if untreated.
Subject(s)
Drainage/methods , Keratosis/therapy , Orofaciodigital Syndromes/complications , Tretinoin/therapeutic use , Face/pathology , Female , Humans , Infant , Keratosis/complicationsABSTRACT
Phacomatosis pigmentokeratotica (PPK) is a rare epidermal nevus syndrome characterized by the co-occurrence of a nevus sebaceous arranged along the lines of Blaschko with a speckled lentiginous nevus (SLN). We report a novel KRAS mutation in a patient with a large nevus sebaceous and an SLN who subsequently developed a vaginal botryoid rhabdomyosarcoma, an association not previously reported in the literature. This case expands our knowledge of the genetic basis for phacomatosis, in which mutations in HRAS have been previously described, although this report provides evidence that activating mutations in KRAS or HRAS may cause PPK. This report confirms that PPK is a mosaic RASopathy with malignant potential and raises the question of whether screening for other RAS-associated malignancies should be performed for all children with PPK.
Subject(s)
Nevus, Pigmented/diagnosis , Proto-Oncogene Proteins p21(ras)/genetics , Skin Neoplasms/diagnosis , Female , Humans , Infant , Mosaicism , Mutation , Nevus, Pigmented/genetics , Skin Neoplasms/geneticsABSTRACT
Nevus spilus (NS), also known as speckled lentiginous nevus, is characterized by background café au lait-like lentiginous melanocytic hyperplasia speckled with small, 1- to 3-mm, darker foci. Nevus spilus occurs in 1.3% to 2.3% of the adult population worldwide. Reports of melanoma arising within hypertrichotic NS suggest that hypertrichosis may be a marker for the development of melanoma. We present a case of a hypertrichotic NS without melanoma and also provide a review of previously reported cases of hypertrichosis in NS. We believe that NS has a lower risk for malignant degeneration than congenital melanocytic nevi (CMN) of the same size, and it is unlikely that hypertrichosis is a marker for melanoma in NS.
Subject(s)
Cafe-au-Lait Spots/diagnosis , Hypertrichosis/pathology , Melanoma/diagnosis , Nevus, Pigmented , Skin Neoplasms , Skin/pathology , Adult , Biopsy/methods , Diagnosis, Differential , Female , Humans , Melanoma/pathology , Nevus, Pigmented/diagnosis , Nevus, Pigmented/pathology , Risk Assessment , Risk Factors , Skin Neoplasms/diagnosis , Skin Neoplasms/pathologyABSTRACT
IMPORTANCE: A new condition, gadolinium-associated plaques (GAP), is reported in 2 patients. It is related to a particular type of gadolinium (gadodiamide) used for contrast-enhanced radiologic studies. OBSERVATIONS: Erythematous plaques, 0.5 to 2.5 cm in diameter, were pruritic in one case and asymptomatic in a second case. Findings from the histopathologic examination revealed eosinophilic, collagenous, round or ovoid bodies (sclerotic bodies) in various stages of calcification. Previously, these sclerotic bodies were thought to be pathognomonic for nephrogenic systemic fibrosis (NSF) in the setting of chronic renal disease with associated gadolinium exposure. Neither patient had NSF, while only 1 of these patients had renal disease. The patient who did not have renal disease received high doses of gadolinium. CONCLUSIONS AND RELEVANCE: Physicians should be aware that GAP can occur without NSF or renal disease and is associated with the use of radiologic dyes. Sclerotic bodies have been reported only in association with gadolinium exposure (eg, gadodiamide) either in the sclerotic skin in NSF or in GAP.
