Journal of dermatological case reports最新文献

Background: Acrodermatitis enteropathica (AE) is a rare autosomal recessive metabolic disorder. First described by Brandt in 1936 and was named by Danbolt. A mutation in the SLC39A4 gene on chromosome 8 q24.3 is responsible for this disorder, which encodes zinc transporter Zip4. The diagnosis is made by the clinical presentation and histopathology and laboratory tests. In this case, we reported a twin presented with a typical rash and low zinc level. To our knowledge, very few cases reported as a twin with typical acrodermatitis enteropathica presentation.

Main observations: Four months old twins both females, first children of a non-consanguineous marriage. The twins were born at term, caesarian section, with no complications. Presented with erythema, scaling, crusting and oozing over perioral, perianal areas, hands and feet of 2-3 week duration. The lesions started around the same time for both children with a history of intermittent diarrhea, and hair loss. There were no nail changes or neurological deficit or myopathy. There was a history of recent weaning from breast milk and now both children on formula feeds, ragi, fruits. There was no other significant history of other medical problems in the patients or in their family. On examination, erythema, scaling, crusting and oozing over perioral, perianal areas, hands and feet was seen. Minimal diffuse alopecia was noted. Nails were normal. No other abnormalities were observed. Clinical diagnosis of acrodermatitis enteropathica was considered and confirmed by low zinc levels (repeated plasma zinc levels were below 0.6 mcg/ml). The twins were managed with zinc supplementation 1 mg/kg/day. A significant improvement was seen within two weeks.

Conclusions: Early diagnosis of acrodermatitis enteropathica is essential for preventing complications. We report a rare case of typical clinical presentation of the disease developing simultaneously in twins.

Background: Multinucleated Cell Angiohistiocytoma (MCAH) is a rare disease, first described by Smith and Wilson Jones in 1985. Since then, less than 100 cases have been reported in the literature. Clinically it is characterized by papules or plaques arising from a specific anatomical area such as lower extremities, dorsum of the hands and face. Some generalized cases have been reported.

Main observations: We report a case of 77-year-old woman who presented with multiple itching. reddish to violaceous, flat to domed-shaped plaques on the lower legs with symmetrical and bilateral distribution along the saphena veins. On dermoscopy examination only a red-violaceous homogeneous area was visible. Histology showed remarkable proliferation of dilated small vessels in the upper and mid dermis and bizarre-shaped multinucleate giant cells with scalloped cytoplasm that were intermingled with numerous mononucleated spindle cells. Many mast cells containing the characteristic granules were also detected, often adjacent to the multinucleate cells. Based on the clinico-pathologic findings the diagnosis of MCAH was established.

Conclusions: To our knowledge, this is the first documented case of MCAH with a bilateral and linear pattern disposed on the lower limbs, following the saphena veins. In this patient chronic trauma induced by ambulation might have contributed to development of the lesions.

Background: Rosacea is a common skin disease and predominantly affects on the face of middle-aged women. It exceptionally occurs on the extrafacial areas such as ear, neck, axilla, and upper extremities, and has been reported as disseminated rosacea.

Main observation: A 40-year-old Japanese female presented with one-month history of erythematous skin eruption with burning sensation on the face, neck, and upper limbs. Physical examination showed rosacea-like eruption on the face as well as multiple papules disseminated on the neck, forearms, and hands. These extrafacial lesions demonstrated papulonecrotic appearance. Bilateral conjunctiva showed marked hyperemic which was consistent with ocular rosacea. Corneal opacity was also seen. Histology of the umbilicated papule on the neck revealed necrobiotic granulomas around the hair follicle with transepidermal elimination. Another tiny solid papule on the forearm suggesting early lesion also demonstrated necrobiosis with palisading granuloma but no transepidermal elimination. Systemic administration of minocycline and topical tacrolimus therapy promptly improved the skin lesions. Topical application of fluorometholone in temporary addition with levofloxacin improved ocular involvement 12 weeks after her 1st visit. The clinical course of the skin lesion and ocular symptoms mostly correlated. Then, the skin lesion and ocular symptoms often relapsed. Rosacea uncommonly associates with the extrafacial involvement as disseminated rosacea. The present case is characterized by the disseminated papulonecrotic lesions of the extrafacial areas histologically showing transepidermal elimination of necrobiotic granulomas.

Conclusions: Dermatologists should recognize that papulonecrotic lesions of the neck and upper extremities might be extrafacial rosacea when the patient has rosacea on the face.

Background: Epidermolysis bullosa simplex associated with muscular dystrophy is a genetic skin disease caused by plectin deficiency. A case of a 19-year-old Czech patient affected with this disease and a review all previously published clinical cases are presented.

Main observations: In our patient, skin signs of the disease developed after birth. Bilateral ptosis at the age of 8 years was considered as the first specific symptom of muscular dystrophy. Since then, severe scoliosis, urological and psychiatric complication have quickly developed. The signs of plectin deficiency were found by histopathological studies, electron microscopy and antigen mapping of the skin and muscular samples. Two autosomal recessive mutations in the plectin gene leading to premature termination codon were disclosed by mutation analysis. By review of all published clinical cases, 49 patients with this disease were found. 54 different mutations in the plectin gene were published, p.(Arg2319*) in exon 31 being the most frequently found. Median age of muscular dystrophy development was 9.5 years. Hoarseness and respiratory complications were the most often complications beside skin involvement.

Conclusion: Epidermolysis bullosa simplex with muscular dystrophy was diagnosed based on clinical, histopathological (skin and muscle biopsy) and mutation analysis of the plectin gene. Overview of the genetic and clinical characteristic of this disease could be presented by review of all previously published clinical cases.

Background: Hereditary leiomyomatosis and renal cell cancer syndrome (HLRCC) is an autosomal dominant syndrome due to mutation in fumarate hydratase. Patients with HLRCC frequently develop cutaneous and uterine leiomyomata and are at risk for renal cell carcinoma. Rarely, other malignancies have been reported.

Main observations: We report the development of basal cell carcinoma and melanoma in two siblings with genetically-confirmed HLRCC.

Conclusions: It is unclear whether the development of melanoma and basal cell carcinoma in our patients is due directly to their mutations in the gene encoding fumarate hydratase, or genetic susceptibility at another unrelated locus, or whether these are incidental lesions. However this observation has implications for careful and routine skin surveillance in patients with HLRCC for lesions other than cutaneous leiomyomata.

Background: Nevogenesis is a complex process involving several pathogenetic mechanisms, including genetic factors, hormonal influences and UV-radiation. Trauma has been described as a triggering factor for an alternative pathway of nevogenesis. Eruptive melanocytic nevi (EMN), related either to immunosuppression or to blistering disorders, represent a special type of nevi probably induced by the disruption of the dermo-epidermal junction and consequent proliferation of quiescent pigment cells during re-epithelization.

Main observations: We report two patients with three melanocytic nevi that developed de novo along the direction of surgical suturing, following surgical operation for other reason. The lesions exhibited special dermoscopic characteristics and histology revealed features of acquired melanocytic nevi.

Conclusions: Such cases may represent a new type of eruptive nevus, the surgical suturing-induced nevus, which should be included in the differential diagnosis of new pigmentation developing within a scar.