D-penicillamine-induced pseudo-pseudoxanthoma elasticum and extensive elastosis perforans serpiginosa with excellent response to acitretin.

D-penicillamine (DPA)-induced pseudo-pseudoxanthoma elasticum (PXE) and elastosis perforans serpiginosa (EPS) has been reported in the past, but most of the treatment modalities used before have a sub.optimal response. We report a case of DPA-induced pseudo-PXE with extensive EPS who had an excellent rapid response to acitretin. To the best of our knowledge no such report has been published in the past, even though there is a single report of effectiveness of isotretinoin in elastosis perforans serpiginosa. SIMILAR CASES PUBLISHED: One similar case but with a different medication (reference 13).

Rituximab/IVIG in pemphigus - a 10-year study with a long follow-up.

BACKGROUND: Pemphigus is a chronic potentially life-threatening autoimmune blistering disease affecting the skin and/or mucous membranes. Rituximab is being increasingly used and found efficacious in the treatment of pemphigus. OBJECTIVE: To present the Middle-Eastern experience with the use of rituximab in pemphigus. METHODS: A retrospective analysis of patient files was conducted which revealed 23 patients of pemphigus who were treated with rituximab (either alone or with IVIG) in the dermatology department of a tertiary care hospital from July 2004 to December 2014. RESULTS: The mean time to disease control was 8 weeks (median 5 weeks and range 2-30 weeks). 90.9% attained early study end point with the first cycle of rituximab. The remaining 9.1% needed an additional course of rituximab + IVIG to attain disease control. 90.5% of our patients attained complete remission during the study period. The average time to attain complete remission on minimal treatment was 25.4 weeks and partial remission on minimal treatment was attained after a mean period of 18.3 weeks. Rituximab was well tolerated by our patients and the rate of adverse-effects in our cohort was comparable to the previous reports. CONCLUSIONS: Rituximab is an effective and safe treatment for pemphigus and should be considered earlier in the algorithm of pemphigus treatment.

Pallor sign: an indicator of hemangioma in evolution.

BACKGROUND: The typical presentation of infantile hemangioma is well known and is easily recognizable. However, it may have many atypical presentations, as reported in the literature. Most of the hemangiomas are not visible at birth and become apparent at about 3 to 4 weeks of age. There are very few case reports of hemangioma presenting as a pale patch in the dermatology literature, and none of them describe the etiopathogenesis of this presentation and its clinical implications. OBJECTIVE AND CONCLUSION: We report a case of an infantile hemangioma with a trichrome presentation: an erythematous oval patch with a dark red macule at the periphery enclosed by a hypopigmented halo. A brief description of the etiopathogenesis of the pallor sign is also given.

Lupus erythematosus-associated primary and secondary anetoderma.

BACKGROUND: Anetoderma (focal loss of dermal elastic tissue) can either be primary, which is an idiopathic occurrence of anetoderma in normal areas of the skin, or secondary, which is preceded by an inflammatory dermatosis in the same location. OBJECTIVE: Sporadic reports of lupus erythematosus-associated anetoderma have been described in the literature. All reported cases were positive for antiphospholipid antibodies. We present a patient with primary and secondary anetoderma with chronic lupus dermatitis and negative antiphospholipid antibodies. METHOD AND RESULTS: A middle-aged woman presented with a soft nodule with a wrinkled surface on her left arm and an erythematous atrophic plaque with a nodular surface on the chest. Skin biopsy from the left arm showed epidermal atrophy without inflammatory changes. Histologic findings of the lesion on the chest were consistent with chronic lupus dermatitis and secondary anetoderma. Laboratory investigations showed positive antinuclear antibody anti-double-stranded deoxyribonucleic acid (DNA) antibody but negative antiphospholipid antibodies. CONCLUSION: Primary and secondary anetodermas may occur in patients of lupus dermatitis without positive antiphospholipid antibodies.

T-cell lymphoma/Sézary syndrome in a liver transplant recipient.

BACKGROUND: Cutaneous T-cell lymphoma is a rare subtype of posttransplantation lymphoproliferative disease, with only 29 cases reported in the literature to date, the majority of which are post-renal transplantation. Only a few were reported after pancreas, heart, and bone marrow transplantation. There have been no reports of cutaneous T-cell lymphoma following liver transplantation to date. OBJECTIVE: We report a case of a 76-year-old male who developed generalized eczematous eruption 13 years after a liver transplantation. Investigations showed that it was Epstein-Barr virus-negative, CD3-positive, and CD4-positive cutaneous T-cell lymphoma with Sézary cells in the blood. CONCLUSION: This shows that cutaneous T-cell lymphoma/Sézary syndrome can also develop after liver transplantation. To our knowledge, there are no similar reports in the English literature.

Acquired cutis laxa type II (Marshall syndrome) in an 18-month-old child: a case report.

Cutis laxa is a rare disorder resulting from degradation and clumping of elastic fibers in dermis. Type II acquired cutis laxa, shows only cutaneous changes without any systemic involvement. We describe an infant with acquired cutis laxa type II following a generalized inflammatory dermatitis.

Skin-homing CD8+ T lymphocytes show preferential growth in vitro and suppress CD4+ T-cell proliferation in patients with early stages of cutaneous T-cell lymphoma.

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.

Phenotypic variation and allelic heterogeneity in young patients with Papillon-Lefèvre syndrome.

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.

Becker's melanosis: a report of 12 cases with atypical presentation.

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.

Phakomatosis pigmentovascularis type IIb associated with Sturge-Weber syndrome.

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.

Extensive Darier's disease with esophageal involvement.

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.

Lichenoid drug eruption probably associated with rofecoxib.

OBJECTIVE: To report a case of lichenoid drug eruption (LDE) probably induced by rofecoxib. CASE SUMMARY: A 73-year-old woman was prescribed rofecoxib 25 mg/day for rheumatoid arthritis in addition to other medications on which the patient had been stabilized. Six months after initiation of rofecoxib, linear plaques over the infra-orbital and bitemporal areas of both eyes were observed. Several itchy violaceous papules also developed on her right wrist and dorsum of the left foot. She also had a hyperpigmented macule on her right buccal mucosa. As the skin rash was localized and the patient was initially unwilling to undergo skin biopsy, rofecoxib was continued and a topical steroid was started. One month later, the patient was seen in the dermatology clinic, and the improvement of her skin reaction was significant. A skin biopsy performed during this visit was consistent with LDE. On the next day, her rheumatologist decided to discontinue the offending drug, rofecoxib. Two months later, all skin lesions had completely resolved. No rechallenge with rofecoxib was attempted. DISCUSSION: LDE is a rare skin reaction that can be associated with several drugs. Rofecoxib, a cyclooxygenase-2 inhibitor, has never before been reported to cause LDE. An objective causality assessment indicates that rofecoxib was the probable cause of the skin reaction. CONCLUSIONS: As of this writing, to our knowledge, this is the first case report in the English literature in which rofecoxib had led to the development of LDE.

Papular-purpuric "gloves and socks" syndrome in a mother and daughter.

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.

Thalidomide for treatment of severe generalized discoid lupus lesions in two patients with systemic lupus erythematosus.

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.

Dermatologic and oral findings in a cohort of 47 patients with Papillon-Lefèvre syndrome.

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.

Ichthyosis follicularis: a case report and review of the literature.

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.

Two brothers with keratosis follicularis spinulosa decalvans.

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.

Two siblings born preterm with large ears and hypopigmented hair who developed palmoplantar keratoderma and frontal skull bossing: a new syndrome?

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.