Juan Du

Mutation in ribosomal protein L21 underlies hereditary hypotrichosis simplex

Hereditary hypotrichosis simplex (HHS) is a form of nonsyndromic inherited hair loss disorders without characteristic hair shaft changes, which has marked genetic and clinical heterogeneity. After mapping the locus to 13q12.12–12.3 in a Chinese family with a generalized variant of autosomal dominant HHS (ADHHS), exome sequencing was performed in an affected individual. The cause of the disease in this family was identified as a c.95G>A (p.Arg32Gln) mutation in the RPL21 gene, which encoding the ribosomal protein L21. This mutation cosegregated completely with the disease phenotype and was not observed in unaffected family members, 200 normal controls, the dbSNP database, the YH database or pilot data from the 1000 Genomes Project. Additionally, this mutation was found in two patients from another unrelated Chinese family with HHS. To the best of our knowledge, this is the first report describing the involvement of a ribosomal protein gene mutation in a non‐syndromic hair loss disorder. Hum Mutat 32:1–5, 2011.

Novel Mutations in PSENEN Gene in Two Chinese Acne Inversa Families Manifested as Familial Multiple Comedones and Dowling-Degos Disease

Background:Acne inversa (AI), also called hidradenitis suppurativa, is a chronic, inflammatory, recurrent skin disease of the hair follicle. Familial AI shows autosomal-dominant inheritance caused by mutations in the &ggr;-secretase genes. This study was aimed to identify the specific mutations in the &ggr;-secretase genes in two Chinese families with AI. Methods:In this study, two Chinese families with AI were investigated. All the affected individuals in the two families mainly manifested with multiple comedones, pitted scars, and a few inflammatory nodules on their face, neck, trunk, axilla, buttocks, upper arms, and thighs. Reticulate pigmentation in the flexures areas resembled Dowling-Degos disease clinically and pathologically. In addition, one of the affected individuals developed anal canal squamous cell carcinoma. Molecular mutation analysis of &ggr;-secretase genes including PSENEN, PSEN1, and NCSTN was performed by polymerase chain reaction and direct DNA sequencing. Results:Two novel mutations of PSENEN gene were identified, including a heterozygous missense mutation c.194T>G (p.L65R) and a splice site mutation c.167-2A>G. Conclusions:The identification of the two mutations could expand the spectrum of mutations in the &ggr;-secretase genes underlying AI and provide valuable information for further study of genotype-phenotype correlations.

Intertriginous cutaneous mastocytosis in a 16‐year‐old boy

boy Editor, Mastocytosis is a disease characterized by the proliferation of mast cells in several organs, including the skin, bone marrow, liver, spleen, and gastrointestinal tract. The eruption can have multiple clinical presentations but usually appears as red–brown macules or papules with severe pruritus. However, intertriginous persistent yet asymptomatic papular lesions are rare. A 16-year-old male patient presented with lesions in the intertriginous regions that had developed slowly with no symptoms over 10 years. Clinical examination revealed symmetrically distributed, small, brown, flat papules and maculopapules in the axillae (Fig. 1) and groin without scaling. Dariers sign was negative in the affected sites. A general physical examination was otherwise normal. The subject denied having pruritus, diarrhea, abdominal pain, headache, anaphylaxis, and bone pain. His family history was negative for any similar disorder. A skin biopsy taken from one of the brown papules in the left axilla showed enlarged dermal papillas infiltrated mainly by dense spindle-shaped cells with oval to fusiform nuclei and scantly eosinophilic cytoplasm. Similar cells were found around the vessels in the upper dermis (Fig. 2). Both toluidine blue and CD117 stain results were positive (Figs. 3 and 4). Routine examination and bone marrow aspiration were advised but rejected by the patients parents. Considering the clinical appearance and histopathological results, our final diagnosis was intertriginous cutaneous mastocytosis. As the lesions were asymptomatic and were not progressing at a significant rate, no treatment was prescribed. The patient remains under follow-up. Cutaneous mastocytosis is a rare disorder, which normally presents as symmetrically distributed red–brown macules or papules that develop wheals, erythema, and

A case of an adult Langerhans cell sarcoma.

A 56-year-old woman was referred to our dermatology clinic with a 1-year history of a well-demarcated, erythematous, and ulcerated plaque on the nose, axilla, groin, and palmaris et plantaris, accompanied by pain and difficulty that affected her daily life. Physical examination revealed well-demarcated, erythematous, and ulcerated plaques on the nose, generalized disseminated, partially crusted papules and pustules, and eczematous lesions in the axilla and groin. It was infiltrated on palpation and was severely tender. The distal parts of her fingers and toes were distended and lilac in color. The nail plates showed deformation, thickening, hyperkeratosis, and onychorrhexis as well as onycholysis with greenishblack discoloration. The bacterial culture revealed growth of Staphylococcus aureus. Despite several therapies, such as different types of systemic and topical antibiotics and topical steroids, there were no signs of significant improvement. She had a two-year history of renal artery stenosis (Figs. 1–4). Upon admission, physical examination revealed a mass of 2 cm on the right side of her neck. Hepatosplenomegaly was not evident. She denied any recent weight loss or persistent fever. The routine laboratory assessments such as blood count, kidney and liver function tests, serum electrolytes, collagen vascular disease tests, and tuberculin test were all within normal limits except for an increased C-reactive protein level (20.7 mg/l). Skin biopsy from her axilla and groin showed proliferation of Langerhans cells with indented nucleus, with infiltrating small lymphocytes and eosinophils; the new plastic cells showed folded, hyperchromatic nuclei with prominent nucleoli. These cells were positive for S-100, CD68, and CD1a by immunostaining, consistent with Langerhans cell tumors (Figs. 5–9). After confirmation of the diagnosis, a systemic evaluation for detection of any other site of involvement was done. Hematologic and serologic assessments, including differential blood count, peripheral blood smear, and bone marrow aspiration, were all in normal range. In addition, imaging studies, including bone x-ray and computed tomography (CT) scan of the brain, chest, abdomen, and pelvis, were performed to detect any bone, lymph node, pituitary, or visceral involvement. CT/positron emission tomography–CT scan showed multiple increased metabolisms in her sternum and femur pelvis and subcutaneous tissue lymphadenopathy (Figs. 10–13). From then on, Langerhans cell sarcoma (LCS) was diagnosed. She was treated with prednisone, vincristine, and etoposide. Unfortunately, she experienced sudden excessive blood loss from the mouth and nose 10 days

Spontaneously Regressive Angiolymphoid Hyperplasia with Eosinophilia: A Case Report with Evidence of Dendritic Cells Proliferation

To the Editor: A 79‐year‐old male presented with multiple asymptomatic, erythema, and nodules on the right‐front scalp for about three weeks. The number of the nodules gradually increased. Physical examination revealed multiple violaceous, reddish nodules measuring 0.5–1.0 cm and infiltrative plaques located on the right frontal scalp, without evidence of lymphadenopathy [Figure 1a]. Serological examination revealed the elevated level of leukocytes. Peripheral eosinophil and serum IgE were normal. Histopathology revealed vascular hyperplasia in the dermis. The larger vessels were lined by characteristic “hobnail” endothelial cells, which protruded into the lumen and have ovoid nuclei and intracytoplasmic vacuoles. There was mixed inflammatory infiltration of prominently eosinophils, histiocytes, lymphocytes, and neutrophils [Figure 1c]. Immunohistochemical examination revealed dendritic cells of epidermis and dermis increased, with positive CD1a staining, the linear density of CD1a positive dendritic cells was 70–80/mm (normal range 42.7 ± 17.9/mm) [Figure 1d]. Based on the history, clinical examination, and histopathology, the patient was diagnosed with angiolymphoid hyperplasia with eosinophilia (ALHE). The patient did not use any topical drug. The lesions regressed spontaneously after one month [Figure 1b].

D-penicillamine-induced Elastosis Perforans Serpiginosa

To the Editor: Elastosis perforans serpiginosa (EPS) is part of different kinds of perforating diseases that are dependent on factors such as idiopathic, reactive, or drug induced. We report here a case of a patient who presented with multiple reddish‐brown keratinized papules coalescing to form serpiginous plaques in the anterior and posterior of the neck, which was found to be typical D‐penicillamine‐induced EPS.

Henna Tattoo: Temporary or Permanent?

Three children got their first temporary black henna tattoo done together while on holiday in Thailand in February 2017. Two of them were twins aged 9 years, and the third one was a girl aged 8 years. A week later, both the boys developed a pruritic vesicular reaction in the area of the tattoo. Their tattoos became hot, red, and raised. Bullae with clear yellow discharge and golden crusting were present on the erythematous plaque well‐circumscribed within the tattoo patterns on their forearm [Figure 1a]. Almost at the same time, the girl developed itching and irritation in the area of the tattoo, and it became red [Figure 1b]. She was not as serious as the two boys. The three children and their parents had no history of atopy. Their systemic physical examination was normal. Allergic contact dermatitis caused by black henna tattoo was diagnosed based on the clinical findings. The two boys were treated with oral prednisone and loratadine, and topical antibiotic ointment. The girl was treated with oral loratadine and topical antibiotic ointment. Ten days later, the lesions of the two boys had already crusted; however, the girl reported a recurrence of itching and vesicle lesions at the area of the tattoo [Figure 1c]. A supplementary of topical halometasone was given to the girl. One month later, a scar was left in the area of tattoo in all three. A patch test to paraphenylenediamine (PPD) was planned, but the patients’ parents were worried about the strong reaction of the patch test.

A Case of Orf Identified by Transmission Electron Microscopy

To the Editor: A 20-year-old woman complained of two painful pruritic lesions on her left index finger. She had been bitten by a lamb on her index finger a month earlier; the lamb died 2 days later. Five days after having been bitten, she noticed two papules on her left index finger that enlarged gradually. Physical examination revealed two indurated nodules 8-mm and 10-mm in diameter, each with central umbilication and surrounded by a reddish halo [Figure 1a]. The patient had no fever, respiratory symptoms, or lymphadenopathy. The informed consent was written. Figure 1 Clinical picture and electron microscopy of the orf lesions: Note two nodules 8 mm and 10 mm in diameter on the left index finger with an umbilicated center, and surrounded by a reddish halo (a), multiple papules on the left index finger around the original ... Histopathology of the lesions showed epidermal necrosis and a dermal infiltration of neutrophils, eosinophils, and lymphocyte. The transmission electron microscopy of a crust showed multiple typical orf viral particles, which were enveloped with a brick-shaped morphology and consisted of a central DNA-containing core surrounded by a bilayered capsid [Figure ​[Figure1c1c–g]. Orf was diagnosed; the patient was treated with oral moxifloxacin and topical mupirocin. Two days later, she found multiple small papules clustered around each nodule. The palm had severe pruritus [Figure 1b]. She was given chlorphenamine maleate 1 mg at bedtime. The lesions slowly resolved [Figure 1h]. Orf virus has a worldwide distribution among sheep and goats. In humans, orf is typically a mild, self-limiting infection characterized by one or multiple nodules on the hands and fingers, as well as areas remote from the orf infection, including the feet, legs, neck, and face. Infection occurs through inoculation of broken or abraded skin from infectious animals or contaminated fomites. Three to seven days after inoculation, the orf appears as papules that slowly enlarge to a weeping targetoid nodules that ulcerate and form a dry crust. They resolve within 4–8 weeks. No specific treatment is warranted. No person-to-person spread occurs.[1] Systemic symptoms and complications are common. Fever, erythema multiforme, and bullous pemphigoid-like lesions may occur. Less commonly, lymphangitis, lymphadenitis, ocular damage, and erysipelas-like plaques may be evident.[2] Diagnosis of orf is based on clinical features and a history of contact with animals or contaminated material. Electron microscopy is an accurate laboratory approach for confirmation of the diagnosis. In this patient, there were typical nodules and a history of being bitten by a lamb. The differential diagnoses include pyogenic granuloma, cutaneous anthracosis, and orthopox virus infection.[3] To the best of our knowledge, this is the first reported case in China confirmed by electron microscopy. The electron microscopy has been used for the diagnosis of orf.[3,4,5] It shows ovoid particles with a crisscross appearance with viral particles predominantly in ballooned keratinocytes within superficial epidermal keratinocytes. The central DNA-containing core was surrounded by a bilayered capsid.[4] Others have described the viral particle having a brick-shaped morphology and irregular tubules at its surface together with the characteristic crisscross spiral pattern.[5] The nodules usually resolve spontaneously. Treatment for secondary infection may facilitate healing. Financial support and sponsorship Nil. Conflicts of interest There are no conflicts of interest.

Pretibial erysipelas-like erythema as the primary manifestation of renal cell carcinoma, a paraneoplastic manifestation

Although 10%-40% of patients with renal cell carcinoma (RCC) have paraneoplastic signs and symptoms [1], cutaneous manifestations are rare. We report a patient with pretibial erysipelas-like erythema and plaques preceding the renal cancer. The skin lesion resolved after removal of the tumor, confirming its paraneoplastic nature.A 56-year-old woman was referred to our department for pretibial erythematous lesions that resembled erysipelas on the lower extremities over a 2-week period. However, the [...]