The Various Clinical Patterns of Xanthoma disseminatum

Background: Papular xanthoma (PX) is a rare normolipidemic non-Langerhans cell histiocytoxanthomatosis affecting both children and adults. Objective: We describe an adult case of PX associated with angiokeratoma of Fordyce and review the literature in order to compare and discuss previous reports. Methods: We studied the clinical, histopathological, immunocytochemical and ultrastructural findings. Results: We report the findings of our case and compare our case with those described in the literature. Conclusions: Three clinical patterns of PX appeared to emerge in the review of the literature: a self-healing form, a persistent form and a progressive form. The progressive form of PX can be considered the same clinical entity that is also described as progressive nodular histiocytosis.

Section: Discussionmentioning

confidence: 99%

Papular Xanthoma Associated with Angiokeratoma of Fordyce: Considerations on the Nosography of This Rare Non-Langerhans Cell Histiocytoxanthomatosis

Caputo¹,

Passoni²,

Cavicchini³

2003

“…The typical cutaneous lesions of XD are orange-yellow-brownish, discrete or confluent papulonodules [2, 3]. The eruptions may gradually merge into plaques.…”

Section: Discussionmentioning

confidence: 99%

“…Widespread flexural xanthomatous lesions and a frequent association with diabetes insipidus are characteristic of the disease. Xanthomatous lesions of mucous membranes including the mouth and upper respiratory tract commonly occur, but visceral involvement is rare [2, 3]. We report a case of XD with multiple intestinal xanthomas, pulmonary involvement and a fatal outcome.…”

Section: Introductionmentioning

confidence: 98%

Xanthoma disseminatum with Large Plaques Confined to the Back, Pulmonary Involvement and Multiple Intestinal Xanthomas

Hisanaga

Akaike²,

Kuroda³

2004

Xanthoma disseminatum (XD) is a rare benign mucocutaneous xanthomatosis that is classified as a benign non-Langerhans cell histiocytosis. We report a 68-year-old man who presented with peculiar, large plaques confined to the back 7 years after the onset of cranial diabetes insipidus. Histopathological features of the cutaneous lesions were typical of XD. The patient had lower respiratory tract involvement with histiocytic infiltrates, which was unresponsive to various treatments and resulted in a fatal outcome. Gastrointestinal endoscopies revealed multiple xanthomas in the sigmoid colon and the rectum. To our knowledge, this is the first reported case of intestinal xanthomas associated with XD.

“…XD is characterized by multiple red-brown to yellow papules and nodules that symmetrically involve the trunk, face, and proximal extremities, including the flexural folds, such as the neck, axillae, antecubital fossa, groin, and perianal regions [3]. Involvement of the mucous membranes is observed in 30–50% of patients and most frequently affects the mouth, pharynx, larynx, conjunctiva, and cornea [4]. XD may also manifest in the bone marrow, the hepatobiliary, musculoskeletal, respiratory and gastrointestinal tracts, and the central nervous system [5].…”

Section: Introductionmentioning

confidence: 99%

“…Three clinical patterns of XD have been suggested on the basis of its progression and prognosis: a common persistent form, a less common progressive form with systemic involvement, and a rare self-healing form with spontaneous resolution [4]. To date, only a few cases of XD with spontaneous complete resolution have been reported [1,4,8], and the natural course and prognosis of the disease are still poorly understood.…”

Section: Introductionmentioning

confidence: 99%

A Case of Xanthoma Disseminatum with Spontaneous Resolution over 10 Years: Review of the Literature on Long-Term Follow-Up

Park¹,

Joe²,

Kang³

et al. 2011

Xanthoma disseminatum (XD) is a rare and potentially progressive non-Langerhans-cell histiocytosis. To date, a few cases of XD with spontaneous complete resolution have been described. The present report describes a 16-year-old girl who presented with yellow to red-brown papules and nodules on her eyelids, cheeks, axillae, back and buttocks. Indirect laryngoscopy showed multiple xanthomatous plaques on the larynx, posterior pharynx, epiglottis, and vocal cords. Additional findings were polyuria, polydipsia, and amenorrhea. Skin biopsy and electron microscopy results confirmed the diagnosis of XD. The patient was treated with fenofibrate, simvastatin, desmopressin, and sex-hormone replacement therapy. Her skin lesions began to slowly fade 6 years after disease onset, eventually resolving spontaneously and completely, but leaving an atrophic scar, frank anetoderma, and persisting diabetes insipidus. This case report together with a review of the English-language literature on the long-term follow-up of XD patients provides additional information on the natural history of this disease.