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1.
Skinmed ; 22(1): 30-34, 2024.
Article in English | MEDLINE | ID: mdl-38494612

ABSTRACT

Cutaneous metastases (CMs) of internal malignancies are uncommon. The breast in women and the lung in men represent the two elective sites of internal malignancies metastasizing to the skin. The aim of this study was to determine the epidemiologic, clinical, and pathologic features of CMs. A retrospective study of the patients diagnosed with CMs over 30 years was conducted. Thirty cases of CMs were enrolled in our study. In 16 cases (53%), the skin metastasis revealed the internal malignancy. The mean age was 66.4 years with sex ratio men/women of 2. CMs were solitary in 18 cases and multiple in 14 cases. The most frequent location was the chest (12 cases), followed by the abdomen (eight cases), the scalp (seven cases), and the arms (six cases). The common sites of primary malignancy were the lungs in men (nine cases) and the breast in women (three cases). Nine out of 30 patients died with an average of 33 months after diagnosis. In our study, the most frequent primary malignancy in men was lung cancer and in women breast cancer. The onset of CMs during the course of internal malignancy worsens the prognosis of the disease.


Subject(s)
Breast Neoplasms , Lung Neoplasms , Skin Neoplasms , Male , Humans , Female , Aged , Retrospective Studies , Skin Neoplasms/pathology , Lung Neoplasms/pathology , Prognosis
2.
Int J Dermatol ; 2024 Mar 01.
Article in English | MEDLINE | ID: mdl-38426318

ABSTRACT

BACKGROUND: The assessment of nail changes in connective tissue diseases (CTD) has been rarely explored in previous studies. The use of dermoscopy to study vascular changes in nailfolds is an interesting diagnostic technique. The aim of the study was to describe the epidemiological, clinical, and dermoscopic features of nail lesions in CTD. METHODS: A prospective study was performed at the Dermatology Department of Habib Thameur Hospital (Tunis, Tunisia) in collaboration with the Internal Medicine Department over a period of 15 months, from July 2020 to September 2021, including patients diagnosed with systemic sclerosis (SS), systemic lupus erythematosus (SLE) and dermatomyositis (DM). RESULTS: Our study included 48 patients. Nail involvement was found in 44 cases. Dermoscopic nailfold abnormalities were identified in 37 cases. The most common clinical features were ragged cuticle, nailfold erythema, and onycholysis. Additionally, splinter hemorrhage, longitudinal ridging, lunula abnormalities, melanonychia, trachyonychia, leukonychia, increase in transverse curvature, parrot beak nail, half and half nails, and onychorrhexis were described. Nailfold dermoscopy showed a normal pattern in 10 cases, a nonspecific pattern in nine cases (SLE), and a scleroderma pattern in 29 cases (SS and DM). The scleroderma pattern was further categorized into an early pattern (6), an active pattern (14), and a late pattern (9). Normal pattern was observed solely in patients in remission. The late scleroderma pattern was associated with disease duration and systemic involvement. In SLE, disease activity correlated with onycholysis, nailfold erythema, and pathologic pattern in dermoscopy. However, patients with DM displayed a positive correlation between pulmonary involvement and scleroderma pattern. CONCLUSION: Nail involvement in CTD includes a diverse range of abnormalities. Despite being nonspecific, it can provide crucial clues for establishing a diagnosis. Nailfold dermoscopy serves as a mirror for microangiopathy, enabling the detection of changes at an initial stage, and thus, it becomes a diagnostic and prognostic tool.

4.
Gene ; 900: 148127, 2024 Mar 30.
Article in English | MEDLINE | ID: mdl-38181929

ABSTRACT

Elevated rates of consanguinity and inbreeding are responsible for the high prevalence of recessively inherited diseases among inbred populations including Tunisia. In addition, the co-occurrence of two of these conditions, called also comorbidity, within the same individual or in members of the same family are often described in Tunisia which is challenging for diagnosis. The high throughput sequencing has improved the diagnosis of inherited diseases. We report here on a 32-year-old woman born to consanguineous parents. She presented with congenital ichthyosis and muscular dystrophy. She was primarily suspected as suffering from Chanarin-Dorfman syndrome (CDS) with unusual form. Screening of founder mutations allowed only the elucidation of the molecular etiology of Ichthyosis. As the result was inconclusive, Whole Exome Sequencing (WES) was conducted. WES data analysis led to the identification of a mutation in the CAPN3 gene underlying limb-girdle muscular dystrophy type 2A (LGMD2A). Sanger sequencing confirmed the familial segregation of mutations. This work presents the first case worldwide of individual comorbidity of bathing suit ichthyosis and LGMD2A. The co-occurrence of two diseases should be systematically considered when establishing a diagnosis especially in consanguineous populations. WES is a powerful tool for molecular diagnosis in particular for revealing comorbidities and rectifying the diagnosis.


Subject(s)
Muscular Dystrophies, Limb-Girdle , Female , Humans , Adult , Exome Sequencing , Muscular Dystrophies, Limb-Girdle/genetics , Mutation , Comorbidity
5.
6.
Skinmed ; 21(6): 448-450, 2023.
Article in English | MEDLINE | ID: mdl-38051249

ABSTRACT

A 32-year-old woman at 17 weeks' gestation presented with fever and a 1-week history of an acute nodular eruption involving her legs, along with bilateral ankle and knee pain. She also had had a recurrent right breast abscess for 2 months for which she had been treated with oral antibiotics and surgical drainage, but with slight improvement. Cultures of the abscess showed no bacteria or fungi. She had no history of tuberculosis, sarcoidosis, trauma to the breast, or a family history of breast pathology. Cutaneous examination revealed multiple, tender, erythematous, subcutaneous nodules on her legs (Figure 1) and an ill-defined tender mass involving the inferior quadrant of the right breast without nipple discharge or retraction. There was a scar with drainage on her right breast (Figure 2). There were no regional lymphadenopathies. Left breast and left axilla examination was unremarkable. Significant laboratory findings included an erythrocyte sedimentation rate of 54 mm/hour (normal levels [NL] < 20 mm/hour), an elevated C reactive protein at 148 mg/L (NL < 5 mg/L), and a high level of white blood cells averaging 15,000 elements/mm3 (NL < 10,000/mm3).


Subject(s)
Erythema Nodosum , Granulomatous Mastitis , Sarcoidosis , Female , Pregnancy , Humans , Adult , Pregnant Women , Granulomatous Mastitis/complications , Granulomatous Mastitis/diagnosis , Erythema Nodosum/complications , Erythema Nodosum/diagnosis , Erythema Nodosum/pathology , Abscess
9.
14.
Clin Case Rep ; 11(3): e7024, 2023 Mar.
Article in English | MEDLINE | ID: mdl-36879675

ABSTRACT

Familial hypercholesterolemia (FH) is a rare but life-threatening disorder. Skin manifestations can be its only manifestation. We present a case of a fifteen-year-old female child, with multiple eruptive xanthomas, xanthomas anarcus, and a deranged lipid profile consistent with FH. The presence of this manifestation especially in the younger age group should draw attention to hypercholesterolemia. A timely diagnosis is fundamental to prevent serious complications and for early treatment.

15.
Clin Case Rep ; 11(3): e7154, 2023 Mar.
Article in English | MEDLINE | ID: mdl-36998328

ABSTRACT

Recognition of cutaneous myeloid sarcoma is important for all dermatologists to avoid further progression to acute myeloid leukemia. Nevertheless, we highlight the presence of a favorable clinical outcome in some patients with spontaneous regression.

16.
Skinmed ; 21(1): 53-54, 2023.
Article in English | MEDLINE | ID: mdl-36987831

ABSTRACT

A 43-year-old heterosexual Tunisian man presented to the dermatology department with complaints of a genital friable mass. He had a past medical history of chronic hepatitis B. He was married and had a history of multiple sexual partners. The lesion had been present for over 10 years and gradually increased in size, disfiguring his genitalia. It had a major impact on his quality of life, preventing sexual intercourse and resulting in poor personal hygiene. On physical examination, the vegetative lesion presented as a giant cauliflower-like tumor (Figure 1) with a foul smell. The tumor involved the left inguinal region, the suprapubic genitalia, and was encircling the entire penile shaft. He also had inguinal lymphadenopathies. Under local anesthesia, a skin biopsy of the vegetative tumor was performed and sent for histopathologic examination. It revealed an exophytic epithelial tumor with papillomatosis, marked acanthosis, and many koilocytes, especially in the superficial layers of the epidermis. These signs along with the preservation of regular cytology were consistent with the diagnosis of condyloma acuminatum (Figure 2a). The histologic examination also showed clusters of atypical keratinocytes with high mitotic activity and keratinization, suggesting nests of squamous cell carcinoma (SCC) (Figure 2b and 2c). DNA-polymerase chain reaction (PCR) marker for Human papilloma virus (HPV) stains 11 was positive. Serology for hepatitis C, HIV, and syphilis non-reactive. Computed tomography scan of the abdomen and pelvis showed inguinal lymphadenopathies. The patient was referred to the oncologist for radiotherapy to reduce the size of the tumor followed by surgery. (SKINmed. 2023;21:53-54).


Subject(s)
Buschke-Lowenstein Tumor , Carcinoma, Verrucous , Condylomata Acuminata , Male , Humans , Adult , Buschke-Lowenstein Tumor/diagnosis , Quality of Life , Carcinoma, Verrucous/diagnosis , Carcinoma, Verrucous/surgery , Condylomata Acuminata/diagnosis , Condylomata Acuminata/pathology , Condylomata Acuminata/surgery , Skin/pathology
19.
Skinmed ; 20(6): 445-446, 2022.
Article in English | MEDLINE | ID: mdl-36537678

Subject(s)
Skin Neoplasms , Male , Humans
20.
Clin Case Rep ; 10(10): e6424, 2022 Oct.
Article in English | MEDLINE | ID: mdl-36245443

ABSTRACT

Since pemphigus blisters are intraepidermal, scarring should induce at most a post-inflammatory hyperpigmentation. We describe a very atypical and unusual course of pemphigus vulgaris with extensive keloid formation despite high systemic steroids. This could be promoted by the severe flare of the disease, the delay of scarring, and the superinfection.

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