Biomedical subjects
Publications and source records attributed to E Hodak.
We present 2 sibs with a local junctional type of epidermolysis bullosa associated with enamel defect of the teeth, dystrophic nails of the feet, and mental retardation. Subluxation of the lenses was evident in 1 of them. This combination found in a brother and a sister seems to represent a distinct autosomal recessive type of epidermolysis bullosa.
Pachydermodactyly is a rare form of digital fibromatosis that is characterized by acquired, asymptomatic, protracted connective tissue swellings on the back and sides of a few proximal phalanges or proximal interphalangeal joints. This is the tenth reported case of pachydermodactyly. It has previously been reported only in men; to the best of our knowledge, this is the first woman described with this condition.
A male patient with severe cystic acne was treated with 13-cis-retinoic acid in a dosage of 1 mg/kg/day. Early flare-up of his acne and multiple pyogenic-like lesions on his face appeared during the second week of isotretinoin treatment. Histologic study of the lesions revealed granulation tissue. Possible etiologies for this phenomenon are discussed.
BACKGROUND AND DESIGN: Primary anetoderma is a rare cutaneous elastolytic disorder, the etiopathogenesis of which has not yet been established. Six patients with primary anetoderma were studied in an attempt to assess the role of the immunologic system in the elastolytic process. The investigation included the medical history, physical examination, routine blood tests, specific tests for collagen diseases, prothrombin time, activated partial thromboplastin time, thyroxine, indirect immunofluorescence test, and skin biopsies for histopathologic study and direct immunofluorescence. RESULTS: Two of the patients presented with autoimmune disorders: the first had Graves' disease, lupus anticoagulant, and autoimmune hemolysis, and the second had systemic scleroderma. There were positive direct immunofluorescence findings in most of the patients. Furthermore, all of them were found to have serologic immunologic abnormalities, of which the most common was a positive antinuclear factor. CONCLUSIONS: These findings indicate that there is an immunologic involvement in primary anetoderma.
Acne fulminans is a rare form of acne characterized by ulcerative nodules and associated with systemic complications. We report the case of a 17-year-old boy with cystic acne who experienced sudden onset of acne fulminans associated with fever, weight loss, hepatosplenomegaly, and erythema nodosum migrans. To the best of our knowledge, this is the first reported case of acne fulminans manifested by hepatomegaly and erythema nodosum migrans.
Although the underlying pathologic mechanisms of primary anetoderma have not yet been identified, data suggest the participation of an immunologic mechanism in some cases. In a woman with clinical and histopathologic features of primary anetoderma (Jadassohn-Pellizzari type) of 30 years' duration, laboratory investigation disclosed positive antinuclear factor, hypocomplementemia, hypergammaglobulinemia, granular deposits of immunoreactants along the dermoepidermal junction, and fibrillar deposits in the papillary dermis. In addition, she was found to have autoimmune hemolysis and circulating lupus anticoagulant associated with recurrent deep-vein thrombosis and a history of Graves' disease (starting 5 years after onset of primary anetoderma). To our knowledge, none of the latter three autoimmune conditions has been previously associated with primary anetoderma.
We present three patients with familial congenital hypertrichosis localized to the anterior cervical region, associated with peripheral sensory and motor neuropathy. This association may represent a new neurocutaneous syndrome. The association of anterior midline cutaneous lesions with an underlying malformation is discussed.
Two patients had localized multiple cutaneous neurofibromas; one had bilateral involvement of the scalp and the other had true segmental neurofibromatosis. Other signs of neurofibromatosis were absent. Segmental neurofibromatosis may not be related to the generalized types of neurofibromatosis but may be a cutaneous hamartoma.
Eleven patients with pemphigus vulgaris and with eye complaints had histopathological and direct immunofluorescence (DIF) studies on biopsies of their conjunctivae. In eight of the patients the ocular symptoms preceded the other manifestations of pemphigus. None of the 11 patients had any detectable conjunctival blisters or erosions. The conjunctivitis in three of the patients proved on histopathology and DIF to be a manifestation of pemphigus vulgaris. In the remaining patients, conjunctival hyperaemia with or without a mucoid discharge was observed, but there were no specific histopathological features, although one of them had a positive DIF.
A young patient developed an acute self-limited bullous eruption shortly following ampicillin ingestion, with histopathological and immunofluorescent features fulfilling the criteria of bullous pemphigoid. A review of the relevant literature is made with special emphasis on the heterogenous and sometimes misleading faces of drug-induced bullous pemphigoid.
Two new cases of neutrophilic bullous disease exhibiting bound and circulating intercellular IgA in vivo in both direct and indirect immunofluorescence (IF), for which the term IgA-pemphigus was recently proposed, are presented. The first case showed a unique constellation of clinical and histopathological features not previously described for IgA-pemphigus, resembling both dermatitis herpetiformis and pemphigus, for which the designation IgA-herpetiform pemphigus seems most appropriate. The second case showed clinical and histopathological features mimicking subcorneal pustular dermatosis for which the previously used term IgA-pemphigus foliaceus seems most appropriate. The previously reported 11 cases showing similar direct IF findings, as well as our two patients, illustrate the main differences between IgA-pemphigus and classic forms of this condition: (a) different clinical manifestations with the absence of Nikolsky's sign; (b) scanty acantholysis; an abundance of neutrophils, with occasional neutrophilic spongiosis; (c) absence of C3 on direct IF; (d) the lower sensitivity of indirect IF and low levels of circulating antibodies; (e) the relatively benign course of the disease; (f) the apparent responsiveness to sulphones in many cases. It is suggested that IgA pemphigus should be considered as an entity separate from, but closely related to, classic pemphigus.
A case of semicircular lipoatrophy, a rare form of localized lipoatrophy, is described in a 33-year-old woman. No precipitating factors such as trauma could be elicited by questioning. However, the patient subsequently realized that she had unwittingly been subjected to repeated daily trauma as she pressed the affected thigh against the edge of the wash bowl while applying make-up. This case thus supports a possible mechanical basis for this rare entity, and demonstrates the importance of taking a careful history in the search for the possible occurrence of minor episodes of trauma in such cases.
Total peripheral T lymphocytes, OKT4 helper/inducer cells and OKT8 suppressor/cytotoxic cells, as well as T lymphocyte function determined by the local xenogeneic graft-versus-host reaction (GVHR), were investigated in 14 psoriatic patients prior to institution of treatment with etretinate, during the course of treatment and 6 months after its initiation. After approximately 2 months of treatment, there was a significant increase in the number of E-rosette-forming lymphocytes and OKT4 subpopulations with a return to normal levels after 6 months of treatment. The GVHR was positive in only 5/11 patients prior to therapy but in 9/11 patients after 2 and 6 months. Our results indicate that etretinate has a stimulatory effect on T lymphocytes and their subset counts.
A case of fixed drug eruption (FDE) associated with ingestion of rifampin in a young physician is reported. The drug was prophylactically administered because of a previous close contact with a meningococcemic patient. The eruption consisted of two solitary painless purplish lesions located over the extensor surface of the left forearm, characteristic of FDE, except for the absence of residual hyperpigmentation. It is suggested that slight lesions of FDE could be unnoticed or misdiagnosed, thus raising the possibility that such skin reactions to rifampin are more frequent than is reflected in the literature.
Two sisters developed pemphigus vulgaris and pemphigus erythematosus within 3 years. The diagnosis was confirmed by clinical, histologic and immunofluorescent antibody studies. One of the sisters experienced a common cold before the pemphigus developed and displayed a positive macrophage migration inhibition (MIF) test to a combination drug compounded of paracetamol, caffeine, chlorpheniramine maleate and phenylephrine HCl, which she had received 2 weeks prior to the appearance of the cutaneous lesions. It is suggested that her pemphigus was triggered by the drug. Although the patient had a strong genetic and familial predisposition to pemphigus, her clinical symptoms did not become evident until they were activated through an exogenous factor, namely, the causative drug. This case offers an example of a possible interaction between endogenous, genetic factors, and exogenous, triggering factors in the development of full-blown disease.
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Pityriasis rotunda (PR) has been known to affect, almost exclusively, Japanese and South African Bantu, often in association with various systemic diseases. However, the occurrence of PR in Caucasian patients is extremely rare, and has been previously described in only three reports. We hereby report a case of an apparently healthy Caucasian woman from Israel having clinical and histological features characteristic of PR. Pityriasis rotunda (PR) is a rare disorder of keratinization characterized by strikingly well demarcated, perfectly round scaly brownish patches of variable number and diameter located mainly on the trunk and extremities. The exact place of this disorder within the nosology of the cutaneous dermatoses is not yet fully established. However, most authors regard it as a special circumscribed form of acquired ichthyosis with a histological resemblance to ichthyosis vulgaris. For more than half a century following the first description of this disorder in 1906 cases reported were almost exclusively from the Far East, particularly from Japan, or in South African Negroids, with a few cases of West Indian Negroids, usually in association with various debilitating diseases. The first report of a Caucasian patient appeared in the literature in 1966 and since then there have been only two additional reports of PR in Caucasian patients.
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