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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 -
JAMA Dermatology May 2024
PubMed: 38776072
DOI: 10.1001/jamadermatol.2024.1029 -
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 -
The Journal of Pediatrics May 2024
PubMed: 38762065
DOI: 10.1016/j.jpeds.2024.114102 -
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 -
Supportive Care in Cancer : Official... May 2024Cutaneous adverse reactions to epidermal growth factor receptor inhibitors (EGFRi) are some of the most common side effects that patients experience. However, cutaneous...
INTRODUCTION
Cutaneous adverse reactions to epidermal growth factor receptor inhibitors (EGFRi) are some of the most common side effects that patients experience. However, cutaneous adverse reactions that cause dyspigmentation in patients have been rarely reported. Erythema dyschromicum perstans (EDP) is a rare pigmentary condition that causes ashy-grey hyperpigmented macules and patches, with a few cases reported from EGFRi in the literature. The disfiguration caused by this condition may negatively impact patients' quality of life. Our study aimed to describe the clinical characteristics of EDP induced by EGFRi to better recognize and manage the condition.
METHODS
We conducted a multicenter retrospective review at three academic institutions to identify patients with EDP induced by EGFRi from 2017 to 2023 and included sixteen patients in our study.
RESULTS
The median age of patients was 66 years old, with 63% female and 37% male (Table 1). The majority of our patients were Asian (88%). All patients had non-small cell lung cancer and most patients received osimertinib. Median time to EDP was 6 months. The most common areas of distribution were the head/neck region, lower extremities, and upper extremities. Various topical ointments were trialed; however, approximately less than half had improvement in their disease and most patients had persistent EDP with no resolution. All patients desired treatment except one with EDP on the tongue, and there was no cancer treatment discontinuation or interruption due to EDP. Table 1 Patient demographics and clinical characteristics of 16 patients with EDP induced by EGFRi Case no Demographics: age, race, and sex Fitzpatrick skin type Cancer type EGFR therapy Concomitant photosensitive drug(s) Time to EDP (months) Clinical features Distribution Symptoms Treatments and clinical course EDP status from most recent follow up 1 47 y/o Asian male III Stage IV NSCLC Erlotinib None Unknown Brown-blue-gray hyperpigmented patches Bilateral shins Left thigh Xerosis Pruritus Triamcinolone 0.1% ointment for 4 months, improvement of blue discoloration Tacrolimus 0.1% BID for 9 months, improvement but no resolution Ongoing 2 62 y/o Asian female IV Stage IV NSCLC Osimertinib None 4 Gray-brown hyperpigmented patches Bilateral arms Back Forehead Neck Right shin None Tacrolimus 0.1% ointment for 1 year with minor improvement Ongoing 3 69 y/o Asian female IV Stage IV NSCLC Osimertinib None 4 Gray-brown macules and patches Chest Face Forehead Bilateral legs None Tacrolimus 0.1% ointment for 10 months, no improvement Ongoing 4 79 y/o White male II Stage IV NSCLC Osimertinib None 15 Mottled grey-blue hyperpigmented patches and plaques with mild scaling Bilateral arms Back Forehead Neck None Photoprotection, no improvement Ongoing 5 69 y/o Asian female III Stage IV NSCLC Osimertinib Ibuprofen 4 Blue-grey hyperpigmented macules and patches Abdomen Bilateral arms None Tacrolimus 0.1% ointment for 7 months, no improvement Ongoing 6 65 y/o Asian male III Stage IV NSCLC Osimertinib None 20 Hyperpigmented blue gray macules and patches Helix Bilateral shins None Photoprotection, no improvement Ongoing 7 66 y/o Asian female IV Stage IV NSCLC Erlotinib TMP-SMX 6 Ashy grey-brown thin plaques Back Forehead None 2.5% hydrocortisone ointment for 8 months, resolved Resolved 8 82 y/o Asian male III Stage III NSCLC Erlotinib Simvastatin 20 Ash-grey hyperpigmented patches Dorsal feet Forehead Scalp None Photoprotection Ongoing 9 57 y/o Asian female III Stage II NSCLC Erlotinib None 1 Bue-grey discoloration Tongue None No intervention Ongoing 10 51 y/o Asian female III Stage IV NSCLC Osimertinib None 9 Blue-grey hyperpigmented macules and patches Bilateral arms Axillae Groin Neck Trunk None 2.5% hydrocortisone ointment, triamcinolone 0.1% ointment, photoprotection with mild improvement Ongoing 11 67 y/o Asian male III Stage IV NSCLC Osimertinib None 7 Gray-blue macules and patches with mild background erythema and scaling Bilateral arms Ears Face Bilateral shins None Triamcinolone 0.1% ointment, protection for 6 months with mild improvement Ongoing 12 75 y/o Asian female IV Stage III NSCLC Osimertinib TMP-SMX 3 Gray-blue hyperpigmented patches Bilateral arms Abdomen Back Face Bilateral shins Pruritus Triamcinolone 0.1% and betamethasone 0.01% with relief of pruritus, lesions unchanged Triluma cream 6 months, mild improvement Ongoing 13 42 y/o Asian male IV Stage IV NSCLC Afatinib TMP-SMX 24 Grey-brown hyperpigmented patches Back Face None Hydroquinone 4% cream for 2 years with mild improvement Ongoing 14 74 y/o White female III Stage II NSCLC Osimertinib Atorvastatin 4 Grey-brown hyperpigmented patches Bilateral legs Trunk None Photoprotection Ongoing 15 64 y/o Asian female IV Stage IV NSCLC Osimertinib None 3 Gray-brown hyperpigmentation Abdomen Bilateral arms Back Bilateral legs Pruritus Triamcinolone 0.1% cream; No change, minimal concern to patient Ongoing 16 52 y/o Asian female IV Stage IV NSCLC Osimertinib None 42 Gray hyperpigmented patches with digitate shape Abdomen Bilateral flanks None Triamcinolone 0.1% cream Ongoing NSCLC, non-small cell lung cancer, TMP-SMX, Trimethoprim/Sulfamethoxazole CONCLUSIONS: We highlight the largest case series describing EDP from EGFR inhibitors, which mostly affected Asian patients with lung malignancy and on EGFR tyrosine kinase inhibitors. Clinicians should be able to recognize this condition in their patients and assess how it is affecting their quality of life, and refer to dermatology to help with management.
Topics: Humans; Male; Female; Aged; Retrospective Studies; ErbB Receptors; Lung Neoplasms; Middle Aged; Carcinoma, Non-Small-Cell Lung; Erythema; Acrylamides; Drug Eruptions; Aged, 80 and over; Antineoplastic Agents; Protein Kinase Inhibitors; Quality of Life
PubMed: 38750379
DOI: 10.1007/s00520-024-08551-x