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Problemy Endokrinologii Sep 2023We presented the clinical case of neurofibromatosis type 1 (NF-1) associated with pheochromocytoma (PHEO) in a man under 40 years old without family history. The... (Review)
Review
We presented the clinical case of neurofibromatosis type 1 (NF-1) associated with pheochromocytoma (PHEO) in a man under 40 years old without family history. The diagnosis of NF-1 was established based on 4 signs of the disease (multiple café au lait macules, scoliotic changes in posture, the presence of multiple neurofibromas, Lisch nodules). The diagnosis of PHEO was determined by a significant increase of free metanephrin/normethanephrin levels in daily urine, a malignant CT phenotype of the right adrenal tumor, and confirmed by pathomorphological study. Genetic tests revealed a new mutation in one of the alleles of NF1 gene, a deletion of a 566 bp gene fragment, including exon 19 with a size of 73 bp. This mutation leads to splicing of exons 18 and 20, frameshift, and termination of protein synthesis. A study of the level of transcription of the genes associated with PHEO (RET, TMEM127, MAX, FGFR, MET, MERTK, BRAF, NGFR, Pi3, AKT, MTOR, KRAS, MAPK) was conducted, a statistically significant decrease in the level of transcription of the KRAS and BRAF genes and increase in the level of transcription of the TMEM127 gene in comparison with control samples have been detected. This case demonstrates the need for timely recognition of NF-1 for further appropriate patient's follow up and show the effectiveness of a multidisciplinary approach to the diagnosis and treatment of NF-1-associated catecholamine-secreting tumors.
Topics: Humans; Pheochromocytoma; Neurofibromatosis 1; Male; Adrenal Gland Neoplasms; Adult; Neurofibromin 1; Mutation
PubMed: 38796761
DOI: 10.14341/probl13345 -
Postepy Dermatologii I Alergologii Apr 2024Vitiligo is an acquired disorder characterized by the progressive loss of functional melanocytes, resulting in depigmented macules and patches on the skin. It affects a...
INTRODUCTION
Vitiligo is an acquired disorder characterized by the progressive loss of functional melanocytes, resulting in depigmented macules and patches on the skin. It affects a significant portion of the world's population, with no specific gender or geographic predilection.
AIM
To explore the current understanding of the association between vitiligo and COVID-19.
MATERIAL AND METHODS
This is a cross-sectional comparative research of 90 vitiligo patients, separated into two groups: those with COVID-19 confirmed by PCR and those without, gathered in 2018 before the pandemic. Al-Sadar teaching hospital in Al Basra gathered data from March 2021 to May 2022. Vitiligo patients with other infections were excluded. Wood's test was used to confirm vitiligo (VASI score). Age, gender, site of vitiligo, number of lesions, and family history were gathered for all patients in both groups.
RESULTS
Patients with vitiligo and COVID-19 had mild (70.27%), moderate (18.92%), and severe (10.81%) infections. Significant differences were found in age, duration, and VASI score, with younger patients and lower VASI scores in the Vitiligo + COVID-19 group. Females (60.6%) were more affected, and lower limbs (66.7%) were the most common site of vitiligo lesions in COVID-19 patients.
CONCLUSIONS
70.27% of vitiligo and COVID-19 patients had mild infections, 18.92% had moderate infections, and 10.81% had severe infections. Patients with both disorders were younger, had shorter vitiligo durations, and lower VASI scores than those with just one. Females were more likely to have both disorders, and lower limb vitiligo was more prevalent. Family history did not affect either group.
PubMed: 38784935
DOI: 10.5114/ada.2024.138670 -
Cureus Apr 2024Cutaneous collagenous vasculopathy (CCV) is a rare idiopathic dermal microangiopathy. Clinically, it presents as diffuse cutaneous telangiectasias that are...
Cutaneous collagenous vasculopathy (CCV) is a rare idiopathic dermal microangiopathy. Clinically, it presents as diffuse cutaneous telangiectasias that are indistinguishable from other benign vascular entities, thereby posing a diagnostic challenge. We present a case of CCV successfully treated with pulsed dye laser (PDL). A 27-year-old male presented with generalized erythematous macules, diagnosed as CCV via histopathology. After a successful test spot, PDL treatment resulted in significant improvement. The pathogenesis of CCV involves altered dermal microvasculature and veil cell activation. Epidemiologically, it primarily affects Caucasians, most often in the middle-aged adult population. A negative family history of similar lesions can help narrow down the differential diagnosis. Diagnosis requires biopsy, with histopathological examination demonstrating vessel ectasia and collagenous vessel wall thickening. Given its rarity, CCV presents diagnostic and management challenges though PDL emerges as a promising treatment modality for this condition.
PubMed: 38765411
DOI: 10.7759/cureus.58391 -
Cureus Apr 2024Mongolian spots are bluish-grey, irregular, hyperpigmented macules present at birth or that appear in the first few weeks of life. They are classified as atypical if...
Mongolian spots are bluish-grey, irregular, hyperpigmented macules present at birth or that appear in the first few weeks of life. They are classified as atypical if they occur in unusual locations without spontaneous disappearance after infancy; or if new lesions continue to appear beyond early infancy. Although they are generally considered benign, recent studies have shown that atypical Mongolian spots may be associated with inborn errors of metabolism, such as lysosomal storage disorders and neurocristopathies. An 11-month-old male presented with multiple aberrant Mongolian spots on the abdomen, back, buttocks, arms, and legs, with the largest patch measuring 10x10 cm. Additionally, the child exhibited coarse facial features, a high-arched palate, low-set ears, and a depressed nasal bridge. Systemic examination revealed hepatosplenomegaly, fundus examination showed a hazy cornea, and the urine glycosaminoglycan test was positive, prompting us to conduct further research prioritising lysosomal storage disorders. The mucopolysaccharidosis (MPS) spot test was positive, and electrophoresis for MPS revealed bands for chondroitin sulfate and dermatan sulfate, confirming the diagnosis of MPS. Enzyme assay revealed no alpha-iduronidase activity and normal beta-galactosidase activity, thus confirming Hurler's disease. This case report highlights the importance of considering atypical Mongolian spots as a potential indicator of underlying storage disorders, enabling early intervention.
PubMed: 38765368
DOI: 10.7759/cureus.58501 -
Human Genome Variation May 2024Neurofibromatosis type 1 (NF1) is an autosomal dominant nevus disease characterized by multiple manifestations, primarily café-au-lait macules and neurofibromas. Here,...
Neurofibromatosis type 1 (NF1) is an autosomal dominant nevus disease characterized by multiple manifestations, primarily café-au-lait macules and neurofibromas. Here, we present the case of an NF1 patient with 47,XYY mosaicism whose diagnosis was prompted by café-au-lait macules on the skin and mandibular neurofibromas. Targeted next-generation sequencing of the patient's blood sample revealed a novel frameshift mutation in NF1 (NM_000267.3:c.6832dupA:p.Thr2278Asnfs*8) that is considered a pathogenic variant.
PubMed: 38755192
DOI: 10.1038/s41439-024-00279-8 -
Cureus Apr 2024Pigmented hairy epidermal nevus, also known as Becker's nevus, has a typical description as a unilateral, hairy in appearance, light to dark brown patch with an...
Pigmented hairy epidermal nevus, also known as Becker's nevus, has a typical description as a unilateral, hairy in appearance, light to dark brown patch with an irregular but clearly defined border. However, the exact aetiopathogenesis is still poorly comprehended. We report the case of a 19-year-old female who presented with asymptomatic brownish-pigmented macular lesions on the right breast that had slowly increased in size over the past three years. Upon cutaneous inspection, the right breast had 3-5 mm rounded and oval perifollicular macules that ranged from light to dark brown hue without increased hair growth. The macules were discrete and in no particular pattern. Dermoscopy of the lesions showed well-defined perifollicular hypopigmentation surrounded by a pigmented network-like pattern. Histopathology of a punch biopsy taken from one of the follicular lesions demonstrated an increase in basal layer pigmentation with elongation of rete ridges and acanthosis, consistent with Becker's nevus. The patient underwent three sittings of diode laser therapy, once in four weeks, with slight improvement in pigmentation.
PubMed: 38752066
DOI: 10.7759/cureus.58264 -
Clinical, Cosmetic and Investigational... 2024Becker's nevus (BN) is a kind of epidermal cutaneous hamartoma. A noticeable hyperpigmented patch with a big, unilateral, hyperpigmented macule and irregularly shaped...
Becker's nevus (BN) is a kind of epidermal cutaneous hamartoma. A noticeable hyperpigmented patch with a big, unilateral, hyperpigmented macule and irregularly shaped borders is the manner in which BN often presents. In this case, a 16-year-old boy has asymptomatic dark brown colored follicular macule on the left side of the cheek shortly after birth. The lesions were initially inconspicuous but gradually became darker as time passed. The macules on some of them grew hair. This case of BN with apparent hypertrichosis on one side of the cheek, which made it challenging to make a differential diagnosis with whiskers. The primary point of differentiation is that the lesions of BN only appear unilaterally. On the other hand, the face has whiskers on both sides. Additionally, BN will show hyperpigmentation whereas whiskers do not. In conclusion, for its unusual clinical presentation, we believe that reporting this case may help dermatologists avoid misdiagnosing similar cases.
PubMed: 38745871
DOI: 10.2147/CCID.S466776 -
The Journal of Medical Investigation :... 2024Vitiligo is an acquired chronic depigmenting disorder of the skin and is characterized by the destruction of melanocytes. One of the clinical features of vitiligo is...
Vitiligo is an acquired chronic depigmenting disorder of the skin and is characterized by the destruction of melanocytes. One of the clinical features of vitiligo is that damage to normal skin frequently results in the formation of depigmented macules, which is known as Köebner's phenomenon (KP). Here, we presented a case of vitiligo, in which depigmented macules followed the course of a dilated varicose vein. Dilatation of blood vessels was considered to contribute to the development of the vitiliginous lesions as a trigger for KP. Any kind of skin injury can trigger KP, but this is only the second case in which a dilated blood vessel caused KP in vitiligo. J. Med. Invest. 71 : 177-178, February, 2024.
Topics: Humans; Vitiligo; Varicose Veins; Leg; Male; Female; Adult
PubMed: 38735717
DOI: 10.2152/jmi.71.177 -
The Egyptian Heart Journal : (EHJ) :... May 2024HACEK endocarditis is usually insidious and can often be difficult to diagnose due to the slow-growing nature of the organisms. This report presents our experience in...
BACKGROUND
HACEK endocarditis is usually insidious and can often be difficult to diagnose due to the slow-growing nature of the organisms. This report presents our experience in treating a patient with Haemophilus parainfluenzae endocarditis.
CASE PRESENTATION
We describe the case of a previously fit and well 23 year-old woman who presented to her local emergency department with a four-week history of persistent febrile illness. She had associated nausea, vomiting, and lethargy. This was preceded by an episode of mucopurulent rhinorrhoea. She was treated empirically with oral amoxicillin for a putative diagnosis of rhinosinusitis. Initially, her symptoms abated, however, she was readmitted with high fevers and a new pansystolic murmur. Transthoracic echocardiography revealed a large, mobile, echogenic mass, tethered to the posterior mitral valve leaflet (PMVL) and mild mitral regurgitation (MR). On examination, she had multiple non-tender, erythematous macules on the plantar surface of her feet, consistent with Janeway lesions. Two separate blood cultures grew H. parainfluenzae. Infectious diseases recommended a four-week course of intravenous ceftriaxone. Transesophageal echocardiography demonstrated a perforation within the P3 segment of the PMVL. Subsequently, the patient underwent mitral valve repair surgery with an uneventful recovery.
CONCLUSIONS
Our case highlights the importance of promptly diagnosing HACEK endocarditis. A prolonged course of antibiotic therapy can be lifesaving, and surgery is often necessary to address complications such as perforation within the mitral valve leaflets. In our patient, we were able to perform a sliding P2 leaflet plasty for good quality repair of the mitral valve, through a minimally invasive right anterior thoracotomy.
PubMed: 38709318
DOI: 10.1186/s43044-024-00482-6