Journal of dermatological case reports最新文献

Background: Lipoid proteinosis (Urbach-Wiethe disease) is a rare progressive autosomal recessive disorder, characterized histologically by deposition of periodic acid Schiff-positive, diastase resistant, hyaline-like material into the skin, upper aerodigestive tract, and internal organs.

Main observation: We report two cases of lipoid proteinosis. A 2-year-old girl presented with vesiculobullous skin lesions on her face, trunk, extremities and scalp, inability to protrude the tongue and hoarseness of voice that appeared few months after birth. The other case is a 4-year-old girl, who presented with waxy papules on face and trunk, hoarseness of voice and enlarged lips and tongue. The lesions healed leaving pitted scars in both cases. Based on clinical, histopathological and laryngoscopy findings, lipoid proteinosis was diagnosed in both cases. Acitretin was started in a dose of 0.5 mg/kg/day in every child. Complete remission of cutaneous lesions and improvement of the hoarseness was observed after one year.

Conclusion: Acitretin may be benificial for treatment of mucosal and cutaneous lesions in lipoid proteinosis.

Over the past few years melanoma has grown into a disease of socio-economic importance due to the increasing incidence and persistently high mortality rates. Melanoma is a malignant tumor with a high tendency to metastasize. Therefore, an extremely important part of the therapeutic process is to identify the disease at an early stage: in situ or stage I. Many tools for early diagnosis of melanoma are available today, including dermoscopy, videodermoscopy and in vivo reflectance confocal microscopy. Other methods such as high frequency ultrasound, optical coherence tomography and electrical impedance spectroscopy may serve as additional diagnostic aids. Modern imaging techniques also allow the monitoring of melanocytic skin lesions over months or years to detect the moment of malignant transformation. This review summarizes the current knowledge about modern diagnostic techniques, which may aid early diagnosis of melanoma.

Background: Bullous pemphigoid is a cutaneous autoimmune blistering disorder. The etiology for what precipitates this disease is not entirely clear at this point, although it has been associated with certain medications.

Main observation: We describe the case of a 70-year-old male with a past medical history of diabetes type 2 who developed a diffuse eruption of bullae with skin biopsy positive for bullous pemphigoid. He had previously been prescribed sitagliptin 50 mg daily for at least one year prior to onset of his disease. The medication was discontinued and the patient was treated with first IV and then oral steroids with good clinical outcome. There have been a few reports that have explored the relationship between DPP-IV inhibitors (gliptins) and bullous pemphigoid, including three case series and a report on sitagliptin associated allergic skin reactions submitted to the Adverse Event Reports System database of the FDA. According to the Naranjo ADR probability score there is a "possible" cause and effect relationship for this case.

Conclusion: The enzyme DPP-IV is ubiquitously expressed in almost every organ system, including the skin. The exact mechanism at this time is unknown but is believed to be multifactorial involving many aspects of the immune system. Our case and the findings from our literature review further demonstrate a link between dipeptidyl peptidase-IV inhibitors and the development of bullous pemphigoid.

Background: Cutaneous adverse events associated with the use of epidermal growth factor receptor inhibitors, such as cetuximab are relatively common. Although there are reports about possible treatments for acne or acneiform lesions induced by cetuximab, there are only few reports of prospective studies.

Objective: The aim of the study was to analyze the efficacy of varius treatment modalities and their combinations in patients with acneiform eruptions caused by cetuximab.

Patients and methods: We studied 14 patients treated with an epidermal growth factor receptor inhibitors, including 7 patients cetuximab, who developed acneiform eruptions in the course of therapy. All patients were diagnosed as grade II according to the Common Terminology Criteria for Adverse Events (CTCAE) v4.0. A corticosteroid ointment, tacrolimus ointment, and ketoconazole ointment were used in a randomized manner. Oral therapy included administration of antihistaminic drugs, tetracycline, a cyclooxygenase inhibitor, or a macrolide. We measured the numer of days required to achieve improvement from grade II to grade I during cetuximab treatment.

Results: Our results showed that tetracycline treatment may shorten the period needed to achieve improvement. Ketoconazole cream and a combination of oral tetracycline and topical ketoconazole also significantly shortened this period.

Conclusion: The results of our short case study may indicate that a combitation therapy of oral tetracyclin and topical ketokonazole is most effective in the therapy of patients with acneiform eruptions caused by cetuximab.

Background: Mucous membrane pemphigoid (MMP) is a subepithelial autoimmune mucocutaneous disease. It most frequently affects the oral mucosa, followed by ocular and nasal mucosa, nasopharyngeal, anogenital, skin, laryngeal and esophageal mucosa.

Main observation: Two half-sisters developed mucous membrane pemphigoid at approximately the same age. The older sister presented with primarily mucosal disease, while the younger had a more cutaneous disease. The histopathology demonstrated a subepithelial blister and direct immunofluorescence showed deposition of IgG and C3 at the basement membrane zone of perilesional tissues in both sisters. Antibodies to human β4 integrin were present in the sera of both patients and correlated with disease activity. Both sisters carried the same HLADQβ1* 0301 allele.

Conclusions: This is the first case of mucous membrane pemphigoid occurring in two half-sisters. Perhaps, it is the low incidence of mucous membrane pemphigoid that may account for the lack of reports on familial cases of the disease.

Background: Oleoma is defined as a foreign body granuloma resulting from the injection of oily substances into the skin or subcutaneous tissue. Liquid injectable silicone has been used extensively over the last five decades for soft tissue augmentation. Although initially considered as a biologically inert material, it has been implicated in a variety of adverse reactions, sometimes with latent periods of decades.

Main observations: We describe the case of a 44-year-old Peruvian woman presenting with multiple painless yellowish papules and plaques limited to the lower half of the breasts, that seemed to be cutaneous xanthomas. A skin biopsy showed granulomatous inflammation with multiple clear vacuoles corresponding to injected liquid silicone particles, diagnosed as oleoma. The patient was then re-evaluated and she reported that she underwent breast augmentation by injection of liquid silicone five prior to presentation in our department. Thus, the diagnosis of oleoma was confirmed.

Conclusions: We describe a case with yellowish papules on both breasts in a woman that underwent breast augmentation by injection of liquid silicone. Since this unusual presentation of oleomas can be confused with cutaneous xanthomas, a biopsy is essential for diagnosis.

Background: Although the underlying primary cause of chronic wounds may vary, a common etiology of this is a hypoxic or ischemic status of the affected tissue of the lower extremities. In particular, for rare diseases associated with disturbed blood flow a correlation between cause and effect is often diagnosed inappropriately. As a consequence, chronic wounds may develop and persist for years.

Main observations: We present a case of a patient with chronic venous insufficiency due to an occlusion of the inferior caval vein. Initially, a Budd-Chiari syndrome was diagnosed which is a thrombotic obstruction of the hepatic venous outflow. In addition, the patient developed an obstruction of the inferior caval vein and subsequently a chronic venous insufficiency. As a consequence, chronic leg ulcers developed with a history of more than 7 years. Various wound care approaches were performed without success in wound closure. Finally, a combination of compression therapy and topical application of a hemoglobin solution successfully led to fast and persistent wound closure.

Conclusions: Chronic ulcers of the lower limb such as venous leg ulcers, even for patients with rare disorders like Budd-Chiari syndrome, are associated with oxygen supply disturbances resulting in a hypoxic status of the affected tissue. Therefore, an adequate oxygen supply to chronic wounds plays a pivotal role in successful wound healing. Compression therapy in combination with enhancement of the local oxygen supply by topically applied hemoglobin showed marked improvement of wound healing in the presented patient.

Background: Wells syndrome is an uncommon inflammatory dermatosis first described in 1971 by Wells. The clinical eruption is characterized by varying morphology and severity and usually follows a relapsing remitting course. The majority of the reported cases are of unknown etiology, drug induced Wells syndrome has rarely been reported. A literature search using MEDLINE was performed. We recorded the features of our case and of the additional cases of drug induced Wells syndrome in the literature.

Main observations: Including our case there are 25 cases of drug-induced Wells syndrome reported. Causative drugs include antibiotics, anticholinergic agents, anaesthetics, non-steroidal anti-inflammatory agents, thyroid medications, chemotherapeutic agents, thiomersal containing vaccinations, anti-tumor necrosis factor agents and thiazide diuretics.

Conclusions: To the authors knowledge this is the first reported case of drug-induced Wells syndrome from thiazide diuretics. The diagnosis of Wells syndrome is often controversial and we propose a set of diagnostic criteria.

Background: The rare hereditary disorder "dominant deafness and onychodystrophy (DDOD) syndrome" (OMIM 124480) has been described in a few case reports. No putative DDOD gene or locus has been mapped and the cause of the disorder remains unknown.

Main observations: We present here three male family members in three generations with sensori-neural deafness, onychodystrophy and brachydactyly inherited via autosomal dominant transmission. The family members presented with absent fingernails on the first and fifth digits. As to the feet, there were absent nails on second to fifth toes in two family members, whereas the third family member only had absent nails on the fifth toe. The proband had late dentition and his father a history of late dentition, but otherwise the teeth appeared normal. Comparative genomic hybridization array analysis (Agilent 400k oligoarray) of the proband did not detect any copy number variation.

Conclusion: This Danish family fits within the spectrum of dominant deafness and onychodystrophy syndrome and further characterises this rare disorder.

Background: Circumscribed palmar or plantar hypokeratosis defines a benign condition clinically presented as a well-defined depressed area on the skin. It is characterized by a peculiar histopathological picture with the abrupt thinning of the horny layer of the epidermis.

Main observations: We present a case of a 17-year-old man, who presented with a one-year history of an occasionally painful lesion on his right sole. The diagnosis of circumscribed plantar hypokeratosis was confirmed by histopathology. The lesion was successfully treated with calcipotriol ointment.

Conclusions: Circumscribed palmar or plantar hypokeratosis is a benign condition that typically affects the hands. Different therapeutic approaches have been unsuccessful. In our patient the lesion was at a less frequent plantar location and the lesion responded to topical calcipotriol.