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JAAD Case Reports Sep 2022
PubMed: 36046807
DOI: 10.1016/j.jdcr.2022.07.021 -
Clinical Endoscopy Jul 2022
PubMed: 33461285
DOI: 10.5946/ce.2020.286 -
The Pan African Medical Journal 2017Piebaldism is a rare autosomal dominant genodermatosis. It is due to congenital absence of melanocytes in the affected areas. We report a case. A 5 year old girl born to...
Piebaldism is a rare autosomal dominant genodermatosis. It is due to congenital absence of melanocytes in the affected areas. We report a case. A 5 year old girl born to consanguineous parents and with similar cases in her mother's; she presented since birth achromic lesions on the legs with a steady evolution. clinical examination showed confluent achromic macules and poliosis (A) with no contrast enhancement under Wood lamp and several coffee-with-milk colored spots on the trunk and thighs(B). The diagnosis of piebaldism was made. Piebaldism is a rare genodermatosis. Its incidence is estimated at less than 1/20000 newborns. It is characterized by the congenital absence of melanocytes in the areas affected by mutation of the c-kit gene and by symmetrical achromic macules appeared at birth with a steady and persistent evolution. A white lock of hair on the forehead could be seen in 80% of cases The differential diagnosis includes vitiligo, albinism and Waardenburg syndrome. Associations have been described with neurofibromatosis type I. However, isolated coffee-with-milk colored spots can be observed; as the case of our patient. The treatment is based on split-thickness skin graft. Piebaldism is a rare genodermatosis. This study aims to discuss its clinical aspects and differential diagnoses.
Topics: Child, Preschool; Diagnosis, Differential; Female; Humans; Melanocytes; Mutation; Piebaldism; Proto-Oncogene Proteins c-kit
PubMed: 28979623
DOI: 10.11604/pamj.2017.27.221.4961 -
JAAD Case Reports May 2018
PubMed: 29693080
DOI: 10.1016/j.jdcr.2017.09.037 -
Cureus Sep 2021Pernio, also known as chilblains, presents as erythematous macules at sites of cold exposure, mainly in women. It is a diagnosis that is often overlooked, and when...
Pernio, also known as chilblains, presents as erythematous macules at sites of cold exposure, mainly in women. It is a diagnosis that is often overlooked, and when suspecting a patient with pernio, other conditions such as lupus nephritis and Raynaud's must be ruled out. A 46-year-old lady presented to the clinic with skin findings suggestive of pernio. She had erythematous macules on the dorsum of her hands, which appeared during cold weather and lasted for three weeks. She had been suffering with this condition for over 18 years and nothing has helped her condition, other than preventing cold exposure. There are limited treatment options for pernio, and current management includes using steroids, calcium-channel blockers and cold avoidance. Current research has suggested that pernio could also be linked to the severe acute respiratory syndrome coronavirus 2.
PubMed: 34650852
DOI: 10.7759/cureus.17674 -
Journal of Cancer & Allied Specialties 2022Constitutional mismatch repair deficiency (CMMRD) is a rare autosomal recessive disease carrying an increased risk of cancers (paediatric tumours of central nervous... (Review)
Review
Presentation of Acute Lymphoblastic Lymphoma and Colorectal Carcinoma in the Context of Constitutional Mismatch Repair Deficiency Syndrome: A Case Report with Literature Review.
INTRODUCTION
Constitutional mismatch repair deficiency (CMMRD) is a rare autosomal recessive disease carrying an increased risk of cancers (paediatric tumours of central nervous system, haematolymphoid malignancies along with gastrointestinal (GI) cancer(s), which are usually seen in the second and third decades), leading to syndromic presentation. Causal mutations are detected in DNA mismatch repair (MMR) genes, including MLH1, PMS2, MSH2 and MSH6 that are also known for their established role in Lynch syndrome. We describe a case of CMMRD with an earlier (first decade of life) presentation of mediastinal acute lymphoblastic lymphoma and colorectal malignancy.
CASE PRESENTATION
A 5-year-old boy presented with respiratory complaints, bilateral cervical lymphadenopathy, multiple café-au-lait macules (CALMs) on the lower back and history of parental consanguinity with the death of three sisters due to brain tumour within 6 months of diagnosis. Computerised tomographic scan chest revealed a huge mediastinal mass. The patient underwent a trucut biopsy of the mass. The results were significant for a pre-T-cell acute lymphoblastic lymphoma. Suspicion of CMMRD was raised based on a combination of factors described above. A panel of MMR proteins was applied on the biopsy tissue that revealed loss of nuclear expression of MLH1 and PMS2 immunostaining in tumour cells with positive external controls. While on maintenance therapy for lymphoma, about a year later, the patient developed subacute intestinal obstruction due to a stenosing polypoidal circumferential tumour in the mid-sigmoid colon found on flexible sigmoidoscopy that was followed by endoscopic biopsies and insertion of a fully covered self-expanding metallic adult biliary stent with a diameter of 10 mm and length of 6 cm leading to immediate relief of obstruction. Biopsies revealed adenocarcinoma with neuroendocrine differentiation. Metastatic tumour deposits were seen in the omentum, anterior abdominal wall and the left peritoneal wall.
PRACTICAL IMPLICATIONS
Earlier (first decade) presentation of GI malignancy warrants that an earlier screening through radiological scans for any possible tumours and MMR protein expression analysis (loss in tumour plus normal non-tumour cells) are essential in patients having CALMs and family history of paediatric tumours.
PubMed: 37197747
DOI: 10.37029/jcas.v8i1.443 -
Skin Appendage Disorders Aug 2023Localized longitudinal erythronychia is defined as a single nail with a longitudinal red band extending the length of a nail plate. It has a broad differential of benign...
INTRODUCTION
Localized longitudinal erythronychia is defined as a single nail with a longitudinal red band extending the length of a nail plate. It has a broad differential of benign and malignant etiologies, and is rarely due to benign vascular proliferations.
CASE PRESENTATION
We present a unique case of nail unit arteriovenous hemangioma presenting as longitudinal erythronychia of the left thumbnail in a 76-year-old male. The band was 6 mm and encompassed over 40% of the surface area of the nail plate. Dermoscopy showed red bands that were regular in terms of color, but not thickness or spacing. Due to concern for an amelanotic melanoma, a longitudinal excision was performed. Histopathology was consistent with a diagnosis of nail unit arteriovenous hemangioma.
CONCLUSION
Arteriovenous hemangiomas were rarely present in the nail unit. They can be present as a blue or red nodule/macule, or as longitudinal erythronychia. Diagnosis often requires an excisional biopsy, with histopathology notable for a proliferation of multiple thick- and thin-walled vascular structures lined by a flattened endothelium. Our case emphasizes the need to consider vascular proliferations, such as arteriovenous hemangioma, in the differential diagnosis of longitudinal erythronychia.
PubMed: 37588479
DOI: 10.1159/000530739 -
Dermatology Online Journal Dec 2005A 34-year-old man presented with a 6-month history of hypopigmented macules that were interspersed with blanching erythematous macules on the trunk, upper extremities,...
A 34-year-old man presented with a 6-month history of hypopigmented macules that were interspersed with blanching erythematous macules on the trunk, upper extremities, and lower extremities. Bier spots are small, hypopigmented macules that are usually found on the arms and legs of young adults. The intervening skin may seem erythematous but blanches with pressure so that the hypopigmented macules disappear. This is a benign vascular anomaly.
Topics: Adult; Humans; Hypopigmentation; Male; Skin
PubMed: 16403374
DOI: No ID Found -
IDCases 2019Tinea nigra is a superficial infection caused by dematiaceous fungi. The clinical skin lesion is characterized by well-circumscribed brown-black macule patches on the...
Tinea nigra is a superficial infection caused by dematiaceous fungi. The clinical skin lesion is characterized by well-circumscribed brown-black macule patches on the palms and soles. In Asia, such pigmentation on these areas can be suggestive of acral lentiginous melanoma, which cause morbidity and mortality. Here, we report a case of a young patient with solitary black macule on the left palm for a year. Potassium hydroxide test was positive for pigmented short hyphae. The lesion subsided following topical antifungal treatment without recurrence. This report aims to provide insights into diagnosis of patients with pigmentations on acral areas.
PubMed: 31700803
DOI: 10.1016/j.idcr.2019.e00654 -
Open Access Macedonian Journal of... Jan 2019Compare itraconazole alone, fluconazole combined with ketoconazole and ketoconazole in the treatment of patients with pityriasis versicolor.
AIM
Compare itraconazole alone, fluconazole combined with ketoconazole and ketoconazole in the treatment of patients with pityriasis versicolor.
MATERIAL AND METHODS
A group of 240 pityriasis versicolor patients (confirmed with KOH and culture) were classified into 3 groups: Fluconazole 300 mg a week and 2% ketoconazole foam twice a week for 2 weeks (Category I), Itraconazole 200 mg daily for one week (category II); Ketoconazole 2% foam daily for 2 weeks (Category 3). Clinical (colour of macule, scale, pruritus) and mycological assessment were done after 4 weeks of therapy.
RESULTS
After 4 weeks of treatment, clinical cure was observed in 62.4% (Category I), 36.3% (Category II) and 37.5% (Category III).
CONCLUSION
It was reported in our study that the most effective regimen for PV patients is fluconazole 300 mg per week combined with ketoconazole 2% twice a week for 2 weeks.
PubMed: 30745978
DOI: 10.3889/oamjms.2019.092