Chromosomal mosaicism in two patients with epidermal verrucous nevus. Demonstration of chromosomal breakpoint.

Linear epidermal nevi are hamartomas that originate in embryonic ectoderm. For epidermal nevi associated with involvement of other systems, such as the skeleton or central nervous system, the term epidermal nevus syndrome has been introduced. Chromosomal aberrations have been suggested but not proven as an underlying cause. We performed cytogenetic studies of skin cells from two unrelated men who had a verruciform epidermal nevus. Variegated translocation mosaicism with an identical breakpoint localized at the long arm of chromosome 1 was present in both patients. Normal skin and blood lymphocytes showed normal karyotypes.

Extensive linear epidermal nevus associated with hemangiomas of bones and vitamin-D-resistant rickets.

The association of connate, left-sided, extensive epidermal verrucous nevus, multiple isolated bone tumors and vitamin-D-resistant rickets since childhood seen in a 20-year-old male patient corresponded to an epidermal nevus syndrome (ENS). However, other organ involvement occasionally associated with ENS could not be found in this patient, and his intraosseous tumors represented histologically benign hemangiomas. Serum analysis revealed hypophosphatemia (together with phosphaturia), decreased levels of 1,25-dihydroxycholecalciferol and elevated levels of alkaline phosphatase indicating hypophosphatemic osteomalacia. Therefore we suppose that vitamin-D-resistant rickets combined with skeletal tumors represents a peculiar type of osteomalacia caused by unilateral mesenchymomas.

[Incidence of ocular pigment changes in patients with cutaneous melanoma]. / Vorkommen okulärer Pigmentveränderungen bei Patienten mit kutanen Melanomen.

Between October 1990 und April 1992, 116 patients with primary cutaneous melanoma and 6 with primary ocular malignant melanoma underwent both dermatological and ophthalmological examination, standardized personal and clinical criteria being applied. In addition to the record of the DDG melanoma file, the skin type, eye and skin colour, number of naevi, occurrence of any other cutaneous alterations, and the family history with respect to additional malignant neoplasms were documented. It was found that 18/116 patients with cutaneous melanoma also had naevi of the iris, but none had concomitant ocular melanoma. Notably, 32% of first degree relatives (n = 37) had a malignant neoplasm, as against 12% of the dermatological patients with no oncological conditions who acted as controls. Although the occurrence of additional changes in ocular pigmentation alterations in patients with malignant cutaneous melanoma cannot be regarded as significant on the basis of our prospective study, the eye, as a potential location of metastases or the original site in primary malignant melanoma, should be examined during staging and follow-up examinations, especially as isolated cases of oculo-cutaneous correlation have already been reported.

[Pityriasis-lichenoides-et-varioliformis-acuta-like drug exanthema caused by astemizole]. / Pityriasis-lichenoides-et-varioliformis-acutaähnliches Arzneiexanthem durch Astemizol.

We report on a 40-year-old male patient who developed an unusual generalized drug eruption taking the form of a histologically confirmed pityriasis lichenoides et varioliformis acuta (PLEVA) after oral intake of the H1-antagonist astemizole. On two occasions, independently repeated medication with astemizole exacerbated the typical rash again. Oral exposure and the specific lymphocyte transformation test confirmed the suspected causal connection between astemizole and PLEVA.

Effects of interferon-alpha-2b on the clinical course, inflammatory skin infiltrates and peripheral blood lymphocytes in patients with severe atopic eczema.

Increased serum IgE and enhanced susceptibility to viral infections, decreased levels of interferons, lymphocytic skin infiltrates and IgE-bearing epidermal Langerhans cells are striking features in patients with atopic eczema (AE). Since the hyper-IgE syndrome is known to improve under alpha-interferon (alpha-IFN) therapy, we treated 7 patients with severe AE and high serum IgE exclusively with 3 x 10(6) units IFN alpha 2b thrice weekly for 3 months. Before treatment the skin infiltrates mainly consisted of CD3+/CD4+/TcR alpha/beta + lymphocytes, whereas the CD3+/CD8+ phenotype was limited to about 10% of cells. After 6 weeks of therapy, epidermal inflammation with CD4+ and CD8+ cells was reduced but dense infiltrates remained in papillary perivascular areas. Expression of TcR gamma/delta, HLA-DR and CD25 showed no significant changes. Initially high serum IgE and soluble CD23 as well as cell-bound IgE dropped under therapy, whereas a short-term elevation in serum IL-2 receptor was observed. On peripheral blood lymphocytes slightly reduced expression of HLA-DR, LFA-1, CD23 and ICAM-1 was seen after 100 days. LFA-3 expression became reduced in 4 patients, the CD4/CD8 ratio decreased in all cases. After an initial therapeutic response of all patients, significant longer-lasting improvement of the skin lesions could only be observed in 2 of 7 patients. The data of our long-term study suggest that systemic IFN alpha 2b treatment leads to a remarkable reduction in epidermal inflammation but does not significantly influence cutaneous cell subsets. Immunomodulatory effects became obvious by reduced peripheral cell subsets expressing TcR alpha/beta, MHC class II and adhesion molecules.

[Leishmaniasis with multiple cutaneous nodules]. / Leishmaniose mit multiplen Hautherden.

Six weeks after a holiday trip to Yugoslavia, a previously well 48-year-old man developed a reddish-livid, firm nodule, 0.5 cm in diameter, on the proximal joint of the right thumb. A similar nodule appeared nearby, as well as over the left patella. Eleven additional nodules occurred over the next 4 months. His general health remained good and physical examination merely noted the liver edge palpable 3 cm below the costal margin. The histology of one of the nodules showed a tuberculoid, plasma-rich inflammatory reaction reminiscent of leishmaniasis or brucellosis. No organisms were seen. Immunohistochemistry of a frozen section demonstrated Leishmania-associated antigens, and the Western-blot test was characteristic for leishmaniasis. No systemic treatment was undertaken because of likely alcoholic toxic liver damage. On local treatment with paromomycin-containing ointment the cutaneous nodules healed without scar within 3 months.

[Chronicity and diagnostic doubts of Melkersson-Rosenthal syndrome. Analysis of developing ways in 5 cases]. / Chronicité et incertitudes diagnostiques du syndrome de Melkersson-Rosenthal. Analyse des modalités évolutives de cinq cas.

In order to demonstrate the variability of the muco-cutaneous and neurovegetative signs and symptoms of Melkersson-Rosenthal syndrome (MRS), we report the cases of five out of 80 patients suffering from this complex oro-facial syndrome. In the majority of our patients the major symptoms, and in particular recurrent labial or intraoral swellings and/or facial palsy, did not occur simultaneously, which delayed the definite diagnosis of either complete or incomplete type of MRS. However, more than 80 p. 100 of our patients complained of various relapsing cranio-facial neurovegetative troubles that constitute the so-called minor symptoms of MRS, whereas a history or sequelae of facial palsy were found in only 35 p. 100 of our patients followed up for years or decades. In patients with solitary facial palsy or oro-facial oedemas as the initial symptom of putative MRS, the uncovering of concomitant minor symptoms proves to be helpful for substantiating the recognition of incomplete MRS. Thus, in questionable cases of MRS attention should be paid to seemingly incidental disturbances of the cranio-facial neurovegetative system (e. g., relapsing disorders of lacrimation, sweating, migraine-like headache) forming minor but characteristic hints to incomplete or unusual cases of MRS.

[A case of osteopoikilosis combined with dermal changes and compression syndromes of peripheral nerves]. / Ein Fall von Osteopoikilie kombiniert mit dermalen Veränderungen und Kompressionssyndromen peripherer Nerven.

In the case of combination of osteopoikilosis with dermal alterations we wanted to know if the hereby discussed general mesenchymal lesions are the cause of the additional entrapment syndromes of peripheral nerves present in our case. For this purpose we recorded the pressure at the distal median and ulnar nerves within and out of the entrapment location. The results of the pressure recording of not point to a primary nerve lesion by a elevated pressure susceptibility or a pressure elevation at the peripheral nerve out of a defined entrapment location e.g. by an increase of connective tissue. Because of a hypertrophic scar formation in this case it should be paid attention to the wound healing of all patients with osteopoikilosis. The histologically verified nevoid mesenchymal alterations of the connective tissue found in this case, are to be delineated from the disseminated lenticular dermatofibrosis of the Buschke-Ollendorff syndrome.

[Melkersson-Rosenthal syndrome in Curschmann-Steinert dystrophia myotonica]. / Melkersson-Rosenthal-Syndrom bei Dystrophia myotonica Curschmann-Steinert.

We report the case of a 52-year-old female patient who suffered both from myotonic dystrophy (Curschmann-Steinert disease) and Melkersson-Rosenthal syndrome. Both syndromes showed the full-blown clinical features as well as the typical histology. In addition to the possibility that the appearance of the two syndromes together was a mere coincidence, we also consider the possibility that there was a hereditary diencephalic disorder present that linked together some of the minor manifestations of both syndromes.

Bone scan and red blood cell scan in a patient with epidermal naevus syndrome.

A bone scan and red blood cell scan in the rare epidermal naevus syndrome, associated with multiple haemangiomas of the bone and hypophosphataemic osteomalacia in a 20-year-old man are reported. The typical pattern of osteomalacia on the bone scan was associated with lesions of increased bone metabolism in the peripheral bones. The haemangiomas did not pool labelled red blood cells. Thus, the bone scan seems to be suitable for diagnosing the complete extent of haemangiomas in bone, but they could not be specifically proven by red blood cell pooling.

Family study on Melkersson-Rosenthal syndrome. Some hereditary aspects of the disease and review of literature.

The medical records of 73 unrelated patients with either complete or incomplete Melkersson-Rosenthal syndrome attending our department between 1967 and 1985 were analyzed, and 42 of them as well as 171 of their relatives were examined. Lingua plicata was seen in 10, and other features were detected in 6 of the 42 families. The limited frequency of signs characteristic for the syndrome in the relatives examined suggest a multifactorial origin including a genetic basis.

[Classification and scope of clinical variations of Melkersson-Rosenthal syndrome]. / Klassifikation und klinische Variationsbreite des Melkersson-Rosenthal-Syndroms (MRS).

Apart from the apparent trias of oro-facial swellings, facial paresis, and lingua plicata (LP), Melkersson-Rosenthal syndrome (MRS) comprises a variety of complex signs and symptoms. During the last 18 years, 73 patients suffering from MRS were admitted to our hospital. Re-examination of 42 out of these patients and evaluation of all data available proved preceding facial paresis(es) in only 34% of all cases and LP of various degrees in 52%. In more than 80%, however, we found vasomotoric, sialo-secretory, or other neurovegetative "minor signs", locally and/or temporally connected with swellings of either skin or mucosa. Since such minor signs are essential for the diagnosis and the understanding of both "complete" and "incomplete" forms of MRS (either associated with or without typical cheilitis granulomatosa), we worked out a classification of MRS considering the dermal, neurological, and neurovegetative affections observed in our cases and according to the relevant literature. A systematic classification like this, which takes into account the diagnostic signification of the findings, allows exact recognition of "incomplete" forms of MRS and represents a conditio sine qua non with regard to family studies and the follow-up of patients concerned.

[HLA typing in patients with Melkersson-Rosenthal syndrome]. / HLA-Typisierung bei Patienten mit Melkersson-Rosenthal-Syndrom.

27 patients suffering from Melkersson-Rosenthal syndrome (MRS) and 46 of their first degree relatives were investigated with special reference to histocompatibility standardization. In contrast to a control group of 223 healthy German volunteers, our MRS patients revealed high-yet statistically not significant-levels of HLA-B16 and HLA-Cw3 antigens.