1/405. Selective antibody deficiency to bacterial polysaccharide antigens in patients with netherton syndrome. Three patients with netherton syndrome, recurrent sinopulmonary infections, and humoral immune deficiency are described. Although quantitative serum immunoglobulin levels were generally normal, two patients had selective antibody deficiency to bacterial polysaccharide antigens, one associated with IgA-IgG-2 deficiency. A third patient had an antibody deficiency to protein antigens. This is the first report, to our knowledge, that describes antibody deficiency in patients with netherton syndrome. This finding demonstrates the importance of evaluating functional antibody responses to both protein and bacterial polysaccharide antigens and not relying on IgG subclass determination. ( info) |
2/405. Twenty-nail dystrophy and vitiligo: a rare association. The term twenty-nail dystrophy (TND) of childhood has evolved since its initial description in 1977. TND has also been reported in adults, and many clinical as well as histopathologic associations have been described. We describe the third case of a rare association of TND with vitiligo in a 10-year-old girl. ( info) |
3/405. Trichofolliculoma of the upper lip: report of a case. A trichofolliculoma occurring in the mid-philtrum of the upper lip of a 17-year-old boy is reported. It presented as an asymptomatic, 10 mm deep sinus and histology showed keratin-filled cysts or sinuses lined by stratified squamous epithelium. ( info) |
4/405. Pilomatrix carcinoma of the eyelid. PURPOSE: To report a case of a recurring mass with an unusual origin on the eyelid of a 34-year-old man. METHOD: Case report. RESULT: histology demonstrated that the mass was a pilomatrix carcinoma. CONCLUSION: An atypical mass with unusual symptoms or signs needs definitive treatment and diagnostic confirmation with histology. ( info) |
5/405. poems syndrome: cicatricial alopecia as an unusual cutaneous manifestation associated with an underlying plasmacytoma. poems syndrome is a rare condition with cutaneous manifestations commonly including angiomas, hypertrichosis, hyperpigmentation, and thickening of the skin. We describe a male patient with a 2-year history of cervical lymphadenopathy, erythematous thickening of the skin on the neck, and progressive walking difficulties. The patient had an occipital erythema with scarring alopecia and sparse follicular pustules at the edge of the lesion. Further investigation revealed symmetric polyneuropathy, hepatosplenomegaly, monoclonal gammopathy, subclinical thyreopathy, and an osteolytic bone lesion of the skull. Histologically, a plasmacytoma with lambda cell restriction was found. The overlying skin showed marked fibrosis, with loss of hair follicles, and a plasma cell infiltrate of polyclonal origin. The cervical lymph nodes showed histologic characteristics of multicentric Castleman's disease, and the skin of the neck showed thickening and vasoproliferation. There was no evidence of further plamacytomas. After excision of the plasmacytoma and postoperative irradiation, the symptoms gradually resolved within a few months. A cicatricial lesion remained on the occiput without further folliculitis or hair loss on the rest of the scalp. This case illustrates the reactive character of poems syndrome as a paraneoplastic syndrome in myeloma patients. ( info) |
6/405. Ocular findings in ichthyosis follicularis, atrichia, and photophobia syndrome. ichthyosis follicularis, atrichia, and photophobia (IFAP) are typical features of a rare neuroichthyosis termed IFAP syndrome. We demonstrate the ultrastructural findings of the eyes from a 33-year-old patient with IFAP syndrome. Clinically, eyebrows and eyelashes were absent from birth, and photophobia was noted at the age of 1 year. The globes measured 28 and 29 mm, respectively, and both eyes showed a posterior staphyloma. Histopathologically, bilateral centrally located subepithelial avascular corneal scarring with secondary corneal amyloid deposition was found. In addition to already described ocular abnormalities in IFAP syndrome we demonstrate ultrastructural anomalies of desmosomes and tonofilaments in corneal epithelium; defects of basement membrane, Bowman layer, and anchoring fibrils; secondary corneal amyloid deposition; and keratocyte degeneration. A defective tear film, recurrent atopic keratoconjunctival inflammations, or a primary anomaly of corneal epithelial adhesion are potential causes for the corneal defects. photophobia is most likely due to corneal abnormalities. ( info) |
7/405. The relative expression of mutated XPB genes results in xeroderma pigmentosum/Cockayne's syndrome or trichothiodystrophy cellular phenotypes. The human XPB DNA helicase is a subunit of the dna repair/basal transcription factor tfiih, involved in early steps of the nucleotide excision repair pathway. Two distinct clinical phenotypes, xeroderma pigmentosum associated with Cockayne's syndrome (XP/CS) and trichothiodystrophy (TTD), can be due to mutations in the XPB gene. In the present work, we studied cellular dna repair properties of skin fibro-blasts from two patients mutated in the XPB gene: an XP/CS patient cell (XPCS2BA) with a T296C (F99S) transition and a TTD patient cell (TTD6VI) exhibiting an A355C (T119P) transversion. Both cells are clearly associated with different levels of alterations in their response to UV light. To establish the relationship between the relative expression level of these two alleles and dna repair properties, we transfected SV40-transformed XPCS2BA (XPCS2BASV) cells with a plasmid (pTTD6VI) carrying the XPB-A355C cDNA and examined dna repair properties after UV irradiation (cell survival, unscheduled DNA synthesis and kinetics of photoproduct removal) in stable transfectants. We isolated three clones, which express the XPB-A355C gene (Cl-5) or the XPB-T296C gene (Cl-14) or both genes (Cl-19). This con-stitutes a model system allowing us to correlate the relative expression levels of the XPB-A355C (TTD) and XPB-T296C (XP/CS) genes with various dna repair properties. Overexpression of the XPB-A355C (TTD) gene in an XP/CS cell gives rise to a cellular phenotype of increased repair similar to that of TTD6VI cells, while equal expression of the two mutated genes leads to an intermediate cellular phenotype between XP/CS and TTD. ( info) |
8/405. Pili torti with congenital deafness (Bjornstad syndrome): a case report. We report Bjornstad syndrome in a 5-year-old girl with severe bilateral congenital loss of hearing and pili torti. The mode of inheritance of this rare syndrome seems to be heterogeneous. A maternal uncle of the patient was deaf from birth and his hair had shown the same abnormalities at the same age; an autosomal recessive transmission can be assumed. ( info) |
| pachyonychia congenita is characterized by symmetrical nail dystrophy, palmoplantar keratoderma, oral leukokeratosis, and follicular hyperkeratosis. In addition to these features, multiple cutaneous cysts of various kinds have been described. We report a case of pachyonychia congenita associated with eruptive vellus hair cyst. ( info) |
| We describe a patient with follicular mycosis fungoides (MF), a rare folliculotropic variant of cutaneous T-cell lymphoma (CTCL). Follicular involvement in CTCL usually presents clinically as alopecia mucinosa associated histologically with follicular mucinosis. Follicular MF differs from alopecia mucinosa/follicular mucinosis associated with MF with regard to its clinical presentation, histology and, presumably, prognosis. Our patient presented with the characteristic findings of follicular MF, i.e. infiltrated plaques showing numerous enlarged, comedo-like follicular infundibula; histology was dominated by exclusive folliculotropism of atypical lymphocytes sometimes forming follicular Pautrier's microabscesses, and by lack of epidermotropism and follicular mucinosis. Despite photochemotherapy and treatment with oral retinoids and interferon alpha, the patient's follicular MF rapidly developed into a progressive CTCL with large tumorous lesions, but responded to electron beam therapy. The course of our patient's disease confirms the notion that follicular MF may be associated with a worse prognosis than classical MF. However, electron beam irradiation induced remission of follicular MF that was maintained by a combination therapy consisting of extracorporeal photopheresis and interferon alfa. ( info) |