[Show abstract][Hide abstract] ABSTRACT: A total of 27 T-lymphocyte cell strains were established from skin biopsies of 24 patients with various stages of cutaneous T-cell lymphoma (CTCL) by addition of the T-cell growth factors interleukin (IL)-2 and IL-4. Cellular proliferation and phenotypic changes were measured over 3 months in culture, and T-cell clones were studied using T-cell receptor-? re-arrangement techniques. An average outgrowth of 134 million T-lymphocytes from a 4-mm skin biopsy was observed over 2 months. Initially, most T-cells expressed the CD4+ phenotype. In 17 cell strains from patients with early CTCL a statistically significant predominance of CD8+ T-lymphocytes developed over 8-weeks' culture, indicating that CD8+ T-cells controlled the growth of CD4+ T cells, whereas CD4+ T-cells were predominant in cell strains from advanced CTCL (p <0.05). TCR-? re-arrangement studies revealed, on average, 12 T-cell clones per cell strain, which was reduced over time to 6 T-cell clones per cell strain. Lymphocytes from peripheral blood could kill lymphocytes from an autologous cell strain, suggesting the presence of autoreactive cytotoxic T-cells. Our study suggests how skin-homing CD8+ T-lymphocytes from patients with early stage CTCL can suppress the in vitro growth of skin-homing CD4+ T-lymphocytes, indicating immune surveillance.
[Show abstract][Hide abstract] ABSTRACT: Papillon-Lefèvre syndrome is an autosomal recessive disorder characterized by palmoplantar hyperkeratosis and aggressive periodontitis. The aim of the study was to identify underlying cathepsin C mutations in 39 subjects with Papillon-Lefèvre syndrome and to explore any phenotypic associations. Genotyping and mutation analyses were performed using standard molecular techniques, and dermatological and oral characteristics were assessed with a semiquantitative clinical score. Three genotypes were present at microsatellite marker D11S1780 and two underlying mutations were identified. The most common genotype (183/183) was associated with an 815G --> C mutation in exon 6 resulting in an arginine to proline change at amino acid 272 (R272P). Patients with the 173/173 genotype revealed an exon 7 G300D mutation resulting in a glycine to aspartic acid change at amino acid 300. The mutation in a family with 189/189 genotype remained unknown. A significant difference in hyperkeratosis of the feet was found between the patients with mutations G300D and R272P ( p < 0.05), but not regarding hands or periodontal condition. Young girls displayed significantly less palmoplantar hyperkeratosis ( p < 0.05) than young boys. In conclusion, considerable phenotypic heterogeneity was observed within the two cardinal mutations and in the 189/189 genotype.
[Show abstract][Hide abstract] ABSTRACT: Becker's melanosis is a distinct clinical entity. It usually presents in adolescence as a unilateral, hyperpigmented, hairy cutaneous hamartoma. We report herein 12 cases of Becker's melanosis that differ in their presentation from classical Becker's melanosis, and we believe that such presentations are not uncommon.
International Journal of Dermatology 02/2005; 44(1):20-4. DOI:10.1111/j.1365-4632.2004.02077.x · 1.31 Impact Factor
[Show abstract][Hide abstract] ABSTRACT: Although the involvement of mucous membranes in Darier's disease is relatively uncommon, Darier's disease has been associated with mucosal lesions, especially in the oral mucosa. In the English literature there is only one report describing the involvement of esophageal mucous membranes in a patient with Darier's disease. Herein, we report the second case of Darier's disease with esophageal involvement.
International Journal of Dermatology 12/2004; 43(11):835-9. DOI:10.1111/j.1365-4632.2004.02062.x · 1.31 Impact Factor
[Show abstract][Hide abstract] ABSTRACT: We describe a 23-month-old child with phakomatosis pigmentovascularis type IIb associated with Sturge-Weber syndrome. Phakomatosis pigmentovascularis type IIb is a rare cutaneous malformation characterized by the simultaneous occurrence of nevus flammeus and melanocytic nevi. A brief review of the literature is presented and classification of this rare disease is discussed.
[Show abstract][Hide abstract] ABSTRACT: The papular-purpuric "gloves and socks" syndrome (PPGSS) is a unique exanthem characterized by petechiae with painful edema of the hands and feet extending proximally with less severity. Constitutional symptoms of fever, lethargy, and arthralgia have also been described. Human parvovirus B19 has been implicated in most cases as the causative agent. We describe a mother and her daughter presenting with the characteristic findings of PPGSS and demonstrating the seroconversion of human parvovirus B19 a few days after the onset of their illness. Additional clinical findings of cutaneous vesicles, bullae, and conjunctivitis are reported in the mother's case. To our knowledge, these are the first 2 cases of PPGSS in a household setting.
Journal of the American Academy of Dermatology 07/2003; 48(6):941-4. DOI:10.1067/mjd.2003.91 · 4.45 Impact Factor
[Show abstract][Hide abstract] ABSTRACT: A 37-year-old man was first seen on 20 March 1997 for a 5-year history of widespread, persistent, and intensely pruritic skin lesions on all the extremities. Two years following the appearance of prurigo nodularis (PN), the patient developed a major depressive disorder for which he was given antidepressant agents (amitriptyline and clonazepam) by the psychiatrist. His past history also revealed hepatitis B virus infection. Examination revealed numerous, excoriated, erythematous papules and nodules on all extremities of variable size (ranging from 1 to 3 cm), accompanied by secondary pigmentary changes and scars ( Fig. 1). Investigations revealed normal complete blood count (CBC), urea, creatinine, and liver enzymes. Hepatitis B surface antigen was positive. The patient was treated with several modalities, including antihistamines and topical and intralesional corticosteroids, but with no significant improvement. His depressive symptoms failed to respond and he continued to deteriorate such that he started to exhibit suicidal gestures. On assumption that the continuous itching caused by PN was a major factor in his depression and with the risk of suicide, the decision was made to start thalidomide.On 20 July 1997, thalidomide was started at a dose of 100 mg twice a day after normal baseline work-up, which included a nerve conduction study, CBC, urea, creatinine, and liver function tests. Because of the history of hepatitis B infection, ultrasound of the liver was performed and was reported to be normal. All topical corticosteroids and antihistamines were discontinued and the patient was allowed to use emollient.On 10 August 1997, pruritus had decreased, but with no change in the skin lesions. The patient tolerated thalidomide, and the dose was increased to 100 mg every morning and 200 mg every evening.On 22 March 1998, there was no pruritus, and skin examination revealed the clearance of most of the lesions and flattening of others ( Figs 2 and 3). Central nervous system examination revealed mild sensory loss over both ankles. These changes were seen after a cumulative dose of 79 g. The dose was reduced to 100 mg orally twice a day. A nerve conduction study in May 1998 of three nerves (medial, perennial and surreal) confirmed the clinical findings of mild sensory neuropathy. Because of his very extensive and still active disease, the failure of previous therapeutic modalities, and history of suicidal gestures, full discussion concerning thalidomide side-effects was carried out with the patient and the neurologist, and the decision was made to taper his thalidomide gradually and to monitor for a worsening of neuropathy. During the last 3 months prior to the discontinuation of thalidomide (December 1998 to February 1999), the patient was on a maintenance dose of 50 mg every other day, reaching a cumulative dose of 111 g. A nerve conduction study at the end of treatment (February 1999), compared to the previous study in May 1998, showed a continuous decrease in amplitude of the sensory nerve action potential with unchanged sensory conduction velocity. His hemogram and blood chemistry remained within the normal range during treatment. Four months after the discontinuation of thalidomide, the patient is still in remission with residual hypo- and hyperpigmentation and a few scars, and his peripheral neuropathy has improved significantly.
International Journal of Dermatology 06/2003; 42(5):372-5. DOI:10.1046/j.1365-4362.2003.01184.x · 1.31 Impact Factor
[Show abstract][Hide abstract] ABSTRACT: We describe 2 patients with systemic lupus erythematous whose widespread discoid lupus erythematosus was unresponsive to systemic steroids and antimalarial agents. They showed dramatic improvement to thalidomide at a dose of 300 mg/d, with maximum benefit achieved within 15 weeks of therapy. Dosages of 50 to 100 mg/d were effective in maintaining remission for 1 year. However, thalidomide-induced neuropathy was observed in both cases.
Journal of the American Academy of Dermatology 06/2003; 48(5 Suppl):S89-91. DOI:10.1067/mjd.2003.149 · 4.45 Impact Factor
[Show abstract][Hide abstract] ABSTRACT: Papillon-Lefèvre syndrome is an autosomal recessive disorder characterized by palmoplantar hyperkeratosis and early development of aggressive periodontal infection. The aims of this study were to rank the severity of dermatologic and oral affections using a semiquantitative scoring system, and to evaluate whether the severity of the dermatologic changes were correlated to age, degree of periodontal infection, or both. The study included 47 patients with Papillon-Lefèvre syndrome. With no exception both skin and oral changes developed early in life. The dermatologic involvement showed no correlation with age, whereas the periodontal infection was significantly worse in young children with deciduous teeth. A strong correlation was found between the condition of feet and hands, although the scores for the feet were significantly higher. No significant correlation could be demonstrated between the level of periodontal infection and severity of skin affections, supporting the concept that these 2 major components of Papillon-Lefèvre syndrome are unrelated to each other.
Journal of the American Academy of Dermatology 04/2003; 48(3):345-51. DOI:10.1067/mjd.2003.197 · 4.45 Impact Factor
[Show abstract][Hide abstract] ABSTRACT: Ichthyosis follicularis (IF) is a very rare neurocutaneous, X-linked recessive condition affecting the skin, hair, eyes, and central nervous system (CNS). This report describes a child with facial dysmorphism, mental retardation, psychomotor delay, congenital alopecia of the scalp, eyebrows, and eyelashes, and extensive spiny follicular papules. A skin biopsy specimen showed the characteristic absence of sebaceous glands. We also reviewed the literature on this very rare entity. Additional findings observed in our patient, including hepatosplenomegaly, undescended testicles, and ptosis, have not been reported before.
[Show abstract][Hide abstract] ABSTRACT: Keratosis follicularis spinulosa decalvans is a rare, X-linked disorder affecting both the skin and eyes. There are few reports about this entity. The aim of this report is to describe 2 brothers with progressive scarring alopecia of the scalp, hypotrichosis with follicular prominence of the eyelashes, and extensive keratosis pilaris. The second patient has Down syndrome with palmoplantar keratoderma and partial alopecia of the eyebrows. We also reviewed the literature about this uncommon entity.
Journal of the American Academy of Dermatology 12/2002; 47(5 Suppl):S275-8. DOI:10.1067/mjd.2002.110663 · 4.45 Impact Factor
[Show abstract][Hide abstract] ABSTRACT: A 27-year-old man presented with a history of the absence of the nails of all the fingers and toes since birth. His parents were first-degree cousins and there was no other case in the family. The past medical history was unremarkable. Examination revealed the absence of all the nails of all the toes and fingers (Fig. 1). The teeth and hair were normal and there were no significant skin lesions. Other systemic examinations were normal. X-Ray of the hands and feet showed the presence of terminal phalangeal bones. The patient was diagnosed with anonychia congenita totalis simplex.
Figure 1. Hands showing the absence of all the fingernails
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International Journal of Dermatology 08/2002; 41(7):397-9. DOI:10.1046/j.1365-4362.2002.01535_1.x · 1.31 Impact Factor
[Show abstract][Hide abstract] ABSTRACT: Adoptive transfer of donor immunity has been demonstrated in animals after bone marrow transplantation (BMT). In humans, several autoimmune diseases have been similarly transferred. Although BMT may, per se, be associated with a modulation of the recipient's immune system, which could trigger or even cause autoimmune diseases, both animal experiments and experience with humans show the likeliness of adoptive transfer of donor immunity to the recipient. We describe a patient with multiple myeloma in whom generalized vitiligo developed within 3 months after allogeneic BMT from his HLA-matched sister with vitiligo. We believe that a form of adoptive transfer of donor immunity to the recipient might play a role in the development of vitiligo. In spite of this, neither de novo development of vitiligo in a genetically predisposed patient nor autoimmune phenomena associated with graft-versus-host disease can be completely excluded as a contributing factor for development of vitiligo in our patient. To our knowledge, this is the first case report of transfer of vitiligo after BMT from a donor with vitiligo.
Journal of the American Academy of Dermatology 05/2002; 46(4):606-10. DOI:10.1067/mjd.2002.117215 · 4.45 Impact Factor
[Show abstract][Hide abstract] ABSTRACT: This article discusses two children with an unknown syndrome characterized by palmoplantar keratoderma (PPK), hypopigmented hair, large ears, and frontal bossing. The children were both born preterm, with low birthweights, to consanguineous parents. They developed PPK shortly after birth. In addition, the younger child also has esotropia affecting the right eye. We made a thorough review of the literature but were unable to find a syndrome with all the features described above. To the best of our knowledge, we describe a new syndrome with an autosomal recessive mode of inheritance.
[Show abstract][Hide abstract] ABSTRACT: Multiple eccrine hidrocystomas of the face are a rare facial dermatosis for which no recent large series of cases has been reported.
To describe the clinicopathologic features of five cases of multiple eccrine hidrocystoma and to emphasize their similar characteristics.
The clinical and histologic features of five women with multiple eccrine hidrocystomas of the face are described.
All cases were middle-aged women with numerous, asymptomatic, skin-colored to bluish, papulonodular skin lesions, ranging from 2 to 5 mm in diameter, and mainly centrifacial in distribution. Histopathologically, all cases showed unilocular cysts in the dermis lined by two layers of cuboidal cells. Staining for S-100 protein was negative in the cyst wall in all cases. One case was treated with topical 1% atropine for 3 weeks with no significant improvement. No systemic side-effects were observed during this treatment.
Multiple eccrine hidrocystomas are a rare condition which might be confused clinically and histopathologically with apocrine hidrocystomas. To date, no effective treatment has been reported.
International Journal of Dermatology 03/2001; 40(2):125-9. DOI:10.1046/j.1365-4362.2001.01126.x · 1.31 Impact Factor
[Show abstract][Hide abstract] ABSTRACT: We report a 19-year-old man with congenital erythematous plaque on his left arm that was found histopathologically to be composed of respiratory mucosa. The patient had a triphalangeal thumb and polydactyly in the left hand. This is, to our knowledge, only the third case of ectopic respiratory epithelium presenting as a superficial lesion in the skin to be reported in the English literature, and the first case associated with skeletal malformation and polydactyly.
Journal of the American Academy of Dermatology 12/2000; 43(5 Pt 2):939-42. DOI:10.1016/S0190-9622(00)70230-1 · 4.45 Impact Factor