Xanthoma disseminatum E78.2 + Xanthoma disseminatum

Rare (slightly more than 100 cases described worldwide) chronic non-Langerhans cell histiocytosis (xanthogranuloma family) associated with disseminated (also eruptively exanthematous) papules on skin and possibly mucous membranes without hyperlipidemia (only very occasionally an association with hyperlipidemia is reported).

Abortive form of Langerhans cell histiocytosis (association with diabetes insipidus possible/Montgomery syndrome).

There are 3 known characteristic courses:

• Self-limiting form, with spontaneous remission after years.
• Persistent form
• Progressive form with systemic involvement.

Disseminated, circumscribed or extensive, orange to brown-red papules, possibly confluent into larger plaques. Diabetes insipidus occurs in about 40% of patients, panhypopituitarism is rare (cause: meningeal lesions of the pituitary fossa). Not infrequently, a Köbner phenomenon is detectable. In the face, predominantly an infestation around the eyes. Mucosal involvement in 30-40% of patients (lips, oral mucosa, nasopharynx, larynx/void).

Inflammatory granuloma: leukocytes, eosinophils, lymphocytes, macrophages, storage of lipids, Touton giant cells.

Stabilin-1, HAM56, HHF35, KP1, KiM1P, factor XIIIa, vimentin positive histiocytes; CD1a and S100 are negative.

Juvenile xanthogranuloma

Generalized planar xanthomatosis

Spontaneous regression possible. Exclusion of diabetes insipidus (ADH determination, urine osmolality, tumor exclusion of the pituitary/hypothalamus), if necessary therapy of diabetes insipidus: Desmopressin (e.g. Minirin) 2 times/day intranasally. Cooperation with the internist.

Excision of disturbing xanthomas, especially in the eye area or surgical intervention in case of airway obstruction. Alternatively, ablation can be performed electrocaustically, with the_CO2 laser or with the help of cryosurgery.

Glucocorticoids do not seem to have a positive effect. In individual cases, good effects have been reported with therapy with cyclophosphamide 50-100 mg/day p.o..

Spontaneous regression possible. Mostly, however, persistent or progressive.

In a 17-year-old patient, first papular skin lesions appeared at the age of 10 years. At the age of 13, polyuria and polydipsia were diagnosed as diabetes insipidus and panhypopituarism. Substitution of all pituitary hormones became necessary. Seizures occurred the following year. Discontinuation of anticonvulsants was performed. MRI showed discrete lesions in the temporal lobe area and pituitary stalk. Dyspnea and stridor followed, and the patient underwent tracheostomy. Bronchoscopy revealed multiple xanthomatous nodules in the larynx. At the age of 16, the patient went blind with massive ocular involvement.

Findings: On the trunk and extremities, multiple, locally confluent, bulging elastic, yellow-brown nodules and nodules, which were confluent in places to form verrucous areas. Involvement of the conjunctival mucosa of both eyes. Laryngoscopic multiple xanthomatous nodules and nodules.

Therapy: Approaches with etoposide, thalidomide, topical mechlorethamine had been without success so far. Initially, therapy with azathioprine 150 mg/day was initiated for 14 months, during which the cutaneous foci remained stable, but the ophthalmologic findings continued to deteriorate. The therapy was then changed to cyclophosphamide 50-100 mg/day. This resulted in dramatic improvement of the cutaneous findings, the lesions of the cornea and conjunctiva also decreased and the laryngeal nodules disappeared, so that the tracheostoma became unnecessary.

1. Baron J et al (2003) Xanthoma disseminatum: a rare cause of upper airway narrowing. AJR Am J Roentgenol 180: 1180-1181
2. Blobstein SH et al (1985) Bone lesions in xanthoma disseminatum. Arch Dermatol 121: 1313-1317.
3. Carpo BG et al (1999) Treatment of cutaneous lesions of xanthoma disseminatum with a CO2 laser. Dermatol Surg 25: 751-754
4. Khandpur S et al (2003) Rare association of xanthoma disseminatum with skeletal involvement. Australas J Dermatol 44: 190-193
5. Krishna VC et al (2016) Xanthoma disseminatum with extensive koebnerization associated with familial hypertriglyceridemia C. JAAD 2: 253-256.
6. Montgomery H, Osterberg AE (1938) Correlation of clinical, histopathologic and chemical studies of cutaneous xanthomas. Arch Dermatol Syph 37: 373-502
7. Pfeiffer G et al (2000) Cerebrocutaneous xanthoma disseminatum and disseminated demyelinating encephalomyelitis. Eur Neurol 44: 123-124
8. Rupec RA et al (2002) Xanthoma disseminatum. Int J Dermatol 41: 911-913.
9. Seaton ED et al (2004) Treatment of xanthoma disseminatum with cyclophosphamide. Br J Dermatol 150: 346-349.
10. Utikal J et al (2003) Cutaneous non-Langerhans' cell histiocytoses. J Dtsch Dermatol Ges 1: 471-491
11. Von Gräfe (1867) Verhandlungen ärztlicher Gessellschaften: a case of peculiar tumors on corneas. Klin Wschschr 4: 323