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

porokeratosis in the elderly a new subtype of disseminated superficial actinic porokeratosis

In a review of all cases of porokeratosis histologically diagnosed in our Department during the period 1991-98 we found that 12 patients (22%) were in their seventh to ninth decade. In all 12 (2 males and 10 females) the age of onset of the disease varied between 58 and 89 years (mean age 68.6 years). The clinical picture was similar in all the patients, with the number of lesions varying from a few to 20-50 annular plaques 10-15 mm in diameter, localized mainly on the lower limbs. We suggest that our patients had a very mild form of disseminated superficial actinic porokeratosis confined to the extremities with an unusually late onset. This peculiar variety of late-onset disseminated superficial actinic porokeratosis may represent a type of immunosuppression-induced porokeratosis where the pathologic clone for porokeratosis is present but remains latent until the amount of sun exposure, together with the physiological age-related lowering of immunocompetence, bring about its proliferation

Unilaterale ulzerationen der fingerspitzen [Unilateral finger tip ulcerations]

none5Eine 56-jährige Frau stellte sich vor mit seit 4 Monaten bestehenden chronisch-rezidivierenden bullösen nekrotischen Läsionen an den Endgliedern des Zeige- und Mittelfi ngers der linken Hand. An denselben Fingern litt sie unter Taubheitsgefühl, Lähmung, nachts verstärktem Schmerz sowie Verlust des Feingefühls. Die Behandlung mit topischen Antibiotika und Kortikosteroiden sowie systemischem Ibuprofen und Prednison führte nicht zur Besserung. Die Patientin hatte keine weiteren Erkrankungen, war Nichtraucherin und verneinte eine Verletzung bei der Arbeit oder im Haushalt [Carpal tunnel syndrome (CTS) is caused by the compression of the median nerve throughout the carpal tunnel. CTS usually presents with the classic triad of nocturnal pain, thenar atrophy and hypoesthesia [1], but other common neurologic symptoms include numbness, unrelenting pins and needles paresthesia, loss of sensitivity and motor defi cits [2]. Moreover, CTS may show cutaneous involvement of the distal phalanges of the second and third fi ngers of the hand [1], as in our patient, who had no thenar atrophy. There are few reports that describe this cutaneous variant [2]]openSavoia F.; Tengattini V.; Valenti L.; Gaddoni G.; Patrizi A.Savoia F.; Tengattini V.; Valenti L.; Gaddoni G.; Patrizi A

Photodynamic therapy with 5-methylaminolevulinic acid in the treatment of multiple warts of the face.

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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

Frequency of malignant neoplasms in 257 chronic leg ulcers

none7noBACKGROUND: Chronic leg ulcers are one of the most common medical conditions and are a substantial source of morbidity. OBJECTIVES: To investigate the prevalence of skin cancer mimicking leg ulcers. PATIENTS AND METHODS: This observational study included all patients with a clinical diagnosis of chronic leg ulcers (CLU) admitted to the Wound Care Unit, Division of Dermatology, University of Bologna, between March 2008 and February 2011. Patients' general health was assessed, and skin biopsy and vascular Doppler of the lower limbs were performed. RESULTS: Two hundred fifty-seven patients ages 45 to 98 with CLU were included. Skin biopsies were performed in all patients. Pathologic results showed that 10 patients had ulcerative lesions of neoplastic origin. Surgical excision was performed in all patients with neoplasms. After at least 1 year of follow-up, no recurrences were observed. DISCUSSION AND CONCLUSION: Our findings highlight the important role of systematic biopsies in diagnosing ulcerated tumors of the lower legs and indicate a high prevalence of large ulcerated basal cell carcinomas.Background Chronic leg ulcers are one of the most common medical conditions and are a substantial source of morbidity. Objectives To investigate the prevalence of skin cancer mimicking leg ulcers. Patients and Methods This observational study included all patients with a clinical diagnosis of chronic leg ulcers (CLU) admitted to the Wound Care Unit, Division of Dermatology, University of Bologna, between March 2008 and February 2011. Patients' general health was assessed, and skin biopsy and vascular Doppler of the lower limbs were performed. Results Two hundred fifty-seven patients ages 45 to 98 with CLU were included. Skin biopsies were performed in all patients. Pathologic results showed that 10 patients had ulcerative lesions of neoplastic origin. Surgical excision was performed in all patients with neoplasms. After at least 1 year of follow-up, no recurrences were observed. Discussion and Conclusion Our findings highlight the important role of systematic biopsies in diagnosing ulcerated tumors of the lower legs and indicate a high prevalence of large ulcerated basal cell carcinomas. © 2013 by the American Society for Dermatologic Surgery, Inc. Published by Wiley Periodicals, Inc.openMisciali C;Dika E;Fanti PA;Vaccari S;Baraldi C;Sgubbi P;Patrizi AMisciali C;Dika E;Fanti PA;Vaccari S;Baraldi C;Sgubbi P;Patrizi