Alitretinoin: A new treatment option for hereditary punctate palmoplantar keratoderma (Brauer-Buschke-Fischer syndrome)

To the Editor: Punctate palmoplantar keratoderma type I (Brauer-Buschke-Fischer syndrome or PPKP1) is one of a group of heterogeneous disorders characterized by abnormal keratinization of the palms and soles. It is an autosomal dominant genodermatosis, and lesions appear within the first 2 decades of life. Molecular genetic studies have shown loss-of-function mutations in AAGAB, encoding α- and γ -adaptin-binding protein p34, located at locus 15q22. 1 Since PPKP1 is a rare disease, no standardized treatment has been established. Therapeutic approaches are based on traditional systemic retinoids (e.g., acitretin), although a successful response is not always seen. We describe a 41-year-old Caucasian woman with a 20-year history of hyperkeratotic lesions on the palms and soles. She complained of pruritus and pain, as well as difficulty walking and performing manual activities. Previous treatments, which included various keratolytic creams/ointments and potent topical steroids, did not produce a significant improvement. Similar skin lesions were present in her brother and grandmother. Dermatologic examination demonstrated multiple, yellow-gray crater-like hyperkeratotic papules on the palms and soles. The papules coalesced to form diffuse plaques of approximately 1 to 2 cm in diameter, especially over pressure points on the feet (Fig 1, A). There was no keratoderma transgrediens. Histopathology of a skin biopsy specimen from a palm lesion revealed marked hyperkeratosis, parakeratosis, and mild acanthosis without any change in the dermis, consistent with a diagnosis of PPKP1. Molecular studies were not performed due to lack of availability. Routine hematologic investigations were normal and pregnancy test was negative. Oral alitretinoin 30 mg/day was administered for 8 months as a trial of treatment. Contraceptive therapy was initiated 1 month earlier and continued for 10 months. Almost complete clinical remission of PPK was achieved after 8 months of treatment (Fig 1, B). No local or systemic adverse events were observed. Two months into the follow-up period the patient had not experienced any recurrence. An "8-months-on, 4-months-off" protocol for alitretinoin therapy was planned. Traditional systemic retinoids are used for treatment of PPK by many authors.2 and 3 We elected not to treat with acitretin because of its long-lasting teratogenicity (3 years after stopping treatment) and the need for long-term contraception.4 Alitretinoin (9-cis-retinoic acid) is a new retinoid, with immunomodulatory and anti-inflammatory effects, which binds to retinoic acid receptors A and X. It regulates keratinocyte differentiation with fewer adverse events than traditional retinoids and requires only 1 month of contraception once therapy is completed. 5 We therefore consider oral alitretinoin to be a useful alternative treatment for women of childbearing age who suffer with PPKP

Laugier-Hunziker Syndrome: An Uncommon Cause of Oral Pigmentation and a Review of the Literature

Laugier-Hunziker syndrome is a rare benign condition characterized by diffuse oral hyperpigmentation associated with pigmentation of the nails. The syndrome must be included in the differential diagnosis of diffuse oral pigmentation to exclude other conditions with systemic implications. We describe a 43-year-old white woman with the clinical and histological features of Laugier-Hunziker syndrome associated with toenail pigmentation. The correct clinical identification avoids the need for detailed investigations and treatment. We also review the potential causes of oral pigmentation

Angiokeratoma Circumscriptum Naeviforme Presenting as a Dark Warty Plaque on the Leg

45-year-old man presented with a large, dark, keratotic, warty, and friable plaque on the distal posterior aspect of the left leg (Figure 1, a). The patient reported that the lesion was not present at birth but had appeared approximately at the age of three as an erythematous patch that progressively grew over the time. During adolescence, the surface of the lesion became rough and warty and was easily traumatized due to its location, resulting in recurrent bleeding episodes over a period of years. For this reason, the patient requested lesion removal

Angiokeratoma Circumscriptum Naeviforme Presenting as a Dark Warty Plaque on the Leg

45-year-old man presented with a large, dark, keratotic, warty, and friable plaque on the distal posterior aspect of the left leg (Figure 1, a). The patient reported that the lesion was not present at birth but had appeared approximately at the age of three as an erythematous patch that progressively grew over the time. During adolescence, the surface of the lesion became rough and warty and was easily traumatized due to its location, resulting in recurrent bleeding episodes over a period of years. For this reason, the patient requested lesion removal

Atopic Dermatitis and the Atopic March: What Is New?

Objective. In this paper the authors review the management of atopic dermatitis (AD) and the association between AD and allergic respiratory diseases. Data Sources. PubMed databases, researching articles in the last 15 years. Results. Studies about atopic march are cross-sectional population studies at different ages. They show that the most important predisposing factor for atopy is a decrease of the filaggrin's expression. Conclusions. The most modern theories seem to show that the most important factor which starts the atopic march is represented by an impaired epidermal barrier. It causes an increase in skin permeability to allergens that could induce sensitization even in the airways. The major predisposing factor is a primary inherited epithelial barrier defect resulting from filaggrin gene mutation, but other factors may play a role in this complex mechanism. Further studies are needed to focus on AD treatment and preventive strategies

Syphilis as osteomyelitis of the fifth metatarsal of the left foot: the great imitator hits once again

We report an unusual case of osteomyelitis of the left foot due to syphilitic bone involvement

Outpatient Pediatric Dermatologic Surgery: Experience in 296 Patients

From January 2010 to December 2012, 296 skin biopsies were performed in pediatric patients using only local anesthesia (cream and infiltration). The biopsies were divided into three groups: biopsies of skin neoplasms, biopsies of skin rashes and biopsies of follicular-centered lesions. Our data demonstrate the possibility of using this procedure, with the dual advantage of eliminating hospitalization and cost savings

Safety and Efficacy of Phototherapy in the Management of Eczema

Atopic Dermatitis (AD), a common skin disease, can occur in patients of all age, gender and ethnicity. It is an inflammatory affection, characterized by chronic and highly debilitating behavior. First-line interventions against AD include environmental measures and topical emollients, corticosteroids or calcineurin inhibitors. When these measures are not sufficient, phototherapy represents an efficient second-line option of treatment; it can be administered on its own, or in the most severe cases combined with systemic medicaments such as corticosteroids.Different types of light therapy, including photochemotherapy, have been tested in the past and in recent years for AD: in particular, ultraviolet A1 (UVA1) and narrow band ultraviolet B (NB-UVB) have been reported in the literature as the most effective resources, respectively for acute and chronic AD. However, to date, no guidelines have been realized concerning the use of phototherapy for AD, as no light form has been defined superior to the others. The most reliable protocols and dosimetry are standardized within the American Academy of Dermatology (AAD) psoriasis guidelines.In adults and children over 12 years (8 years for NB-UVB) phototherapy is recommended with strength B and level of evidence II (excluding home phototherapy, which is recommended with strength C and level of evidence III). It is usually safe and well tolerated; however its short- and long-term adverse effects are the same as those observed when light therapy is performed for other pathologic conditions. Erythema and photodamage are in particular quite frequent; moreover it has not been clarified whether UV radiation may induce neoplastic cellular transformation. For all these reasons, the use of phototherapy must be chosen only after a comprehensive and careful evaluation of the patient's features and compliance, as well as of the limitations of the procedure due to costs and availability

Outpatient pediatric dermatologic surgery: experience in 296 patients

From January 2010 to December 2012, 296 skin biopsies were performed in pediatric patients using only local anesthesia (cream and infiltration). The biopsies were divided into three groups: biopsies of skin neoplasms, biopsies of skin rashes and biopsies of follicular-centered lesions. Our data demonstrate the possibility of using this procedure, with the dual advantage of eliminating hospitalization and cost savings