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Indian Dermatology Online Journal 2023Gigantic melanocytosis is a rare and peculiar familial disorder of pigmentation. It presents as diffuse hyperpigmentation interspersed by raindrop-like hypopigmented...
Gigantic melanocytosis is a rare and peculiar familial disorder of pigmentation. It presents as diffuse hyperpigmentation interspersed by raindrop-like hypopigmented macules predominantly involving the sun-exposed areas and later progressing to involve the photoprotected areas as well. All the cases described in the literature were observed to be commencing in the first year of life and were more common in males. Hereby, we report a 28-year-old female who presented with adult-onset gigantic melanocytosis with no similar familial history.
PubMed: 38099019
DOI: 10.4103/idoj.idoj_657_22 -
Clinical Case Reports Jan 2016Primary mucosal melanoma occurs in under 2% of melanomas. Anorectal melanoma is a rare disorder, approximately accounting for 1% of all anorectal carcinomas. Primary...
Primary mucosal melanoma occurs in under 2% of melanomas. Anorectal melanoma is a rare disorder, approximately accounting for 1% of all anorectal carcinomas. Primary anorectal melanoma presents predominantly in women, in the 4th-6th decade of life. Typical clinical manifestations include rectal bleeding and tenesmus. The prognosis remains poor.
PubMed: 26783446
DOI: 10.1002/ccr3.413 -
JAAD Case Reports Oct 2022
PubMed: 36159718
DOI: 10.1016/j.jdcr.2022.08.021 -
JAAD Case Reports Nov 2023
PubMed: 37842162
DOI: 10.1016/j.jdcr.2023.08.038 -
Cureus Apr 2024A relatively rare inherited condition known as Peutz-Jeghers syndrome (PJS) causes mucocutaneous pigmentation and gastrointestinal hamartomatous polyps. These polyps are... (Review)
Review
A relatively rare inherited condition known as Peutz-Jeghers syndrome (PJS) causes mucocutaneous pigmentation and gastrointestinal hamartomatous polyps. These polyps are non-cancerous, but the presence of PJS significantly increases the chances of developing various types of cancers, such as colorectal, pancreatic, gastric, and breast cancer. The purpose of this review article is to give an abbreviated summary of what is currently known about this syndrome, covering its clinical symptoms, pathophysiology, genetics, and management. PJS also raises the risk of getting many malignancies, especially gastrointestinal and pelvic cancers. Symptoms of the gastrointestinal tract brought on by hamartomatous polyps are frequent and include stool blockage, bleeding, and stomach pain. The pigmentation commonly appears as prominent bluish-black macules and frequently affects the skin and mucous membranes. Small macules and large regions of lentiginous pigmentation are both possible. Numerous areas, including the perioral area, buccal mucosa, fingers, and lips, exhibit pigmentation. Bowel obstruction and intussusception risk can be decreased by early identification and routine surveillance of gastrointestinal polyps. The gene serine/threonine kinase 11 (STK11) controls several biological functions, including cell polarity, growth, and proliferation. Genetic counseling is recommended for the affected individuals and their families. This can help assess the risk of passing on the condition to future generations and provide information about available reproductive options. Regular surveillance is crucial for managing the syndrome and reducing the risk of cancer development. Other syndromes and extra-gastrointestinal characteristics, such as somatic tumor polyps outside the gastrointestinal tract, are also linked to this syndrome.
PubMed: 38800180
DOI: 10.7759/cureus.58887 -
Dermatology Reports Aug 2010We present the case of a 29-year-old black female with an initial clinical and histopathologic diagnosis of actinic lichen nitidus. Three years later, she presented with...
We present the case of a 29-year-old black female with an initial clinical and histopathologic diagnosis of actinic lichen nitidus. Three years later, she presented with scattered hyperpigmented macules with oval pink/violaceous plaques bilaterally on her forearms and on her neck, clinically consistent with actinic lichen planus. She was treated with topical steroids at each visit, with subsequent resolution of her lesions. In this report, we discuss the spectrum of actinic lichenoid dermatoses and of disease that presents even in the same patient.
PubMed: 25386247
DOI: 10.4081/dr.2010.e10 -
Molecular Medicine Reports Nov 2016Multiple café-au-lait macules (CALM) are usually associated with neurofibromatosis type 1 (NF1), one of the most common hereditary disorders. However, a group of... (Review)
Review
Multiple café-au-lait macules (CALM) are usually associated with neurofibromatosis type 1 (NF1), one of the most common hereditary disorders. However, a group of genetic disorders presenting with CALM have mutations that are involved in human skin pigmentation regulation signaling pathways, including KIT ligand/KIT proto‑oncogene receptor tyrosine kinase and Ras/mitogen‑activated protein kinase. These disorders, which include Legius syndrome, Noonan syndrome with multiple lentigines or LEOPARD syndrome, and familial progressive hyperpigmentation) are difficult to distinguish from NF1 at early stages, using skin appearance alone. Furthermore, certain syndromes are clinically overlapping and molecular testing is a vital diagnostic method. The present review aims to provide an overview of these 'NF1‑like' inherited diseases and recommend a cost‑effective strategy for making a clear diagnosis among these diseases with an ambiguous borderline.
Topics: Cafe-au-Lait Spots; Diagnosis, Differential; Humans; LEOPARD Syndrome; Mutation; Neurofibromatosis 1; Noonan Syndrome; Pathology, Molecular; Signal Transduction; Skin Pigmentation
PubMed: 27666661
DOI: 10.3892/mmr.2016.5760 -
Indian Journal of Dermatology 2023Tuberous sclerosis complex (TSC) is a disease of varying presentations characterised by the presence of multiple hamartomas in various organ systems in the body. This is...
Tuberous sclerosis complex (TSC) is a disease of varying presentations characterised by the presence of multiple hamartomas in various organ systems in the body. This is an Autosomal dominant disease with damages in two suppressor genes namely TSC1 and TSC2 located on chromosome 9 (9q34-hamartin) and chromosome 16 (16p13.3-tuberin). It is a lifelong disease with neurological manifestations, for example, epilepsy, mental retardation and autism and major dermatological features like facial fibromas (adenoma sebaceum), periungual fibromas, shagreen patches and hypopigmented macules. Some conditions, for example, autosomal dominant polycystic kidney disease can co-exist with TSC as a result of concurrent deletion of both polycystic kidney disease 1 and TSC2 genes present on chromosome 16p13.3. We present a cluster of three families with TSC having varied presentations.
PubMed: 37275798
DOI: 10.4103/ijd.IJD_706_20 -
JAAD Case Reports Jan 2023
PubMed: 36505037
DOI: 10.1016/j.jdcr.2022.10.030 -
BMJ Case Reports Sep 2017A 38-year-old man presented with excessive height gain and progressive enlargement of the extremities since childhood. This was compounded by lower limb deformities over...
A 38-year-old man presented with excessive height gain and progressive enlargement of the extremities since childhood. This was compounded by lower limb deformities over the past 5 years. On examination, his height was 196 cm, he had macroglossia, acral enlargement, seborrhoea, hyperhidrosis-suggesting acrogigantism. He had facial asymmetry, wind-swept deformity of lower limbs and a café-au-lait macule over his trunk. Investigations revealed normal-sized pituitary gland with dysplastic cranial bones. Isotope bone scintigraphy was suggestive of polyostotic fibrous dysplasia. A diagnosis of McCune-Albright syndrome was made and trans-sphenoidal hypophysectomy was undertaken. He had persistent hypophosphataemia. Tubular reabsorption of phosphate adjusted for glomerular filtration rate was low and serum FGF-23 level was high. Ga-DOTATATE scintigraphy showed somatostatin-receptor expression in all the dysplastic lesions. FGF-23 produced by the bony lesions could counteract the phosphate-retaining effect of GH excess resulting in hypophosphataemia, which further worsened following hypophysectomy.
Topics: Acromegaly; Adult; Cafe-au-Lait Spots; Facial Asymmetry; Fibroblast Growth Factor-23; Fibrous Dysplasia, Polyostotic; Humans; Hypophosphatemia; Male; Radionuclide Imaging
PubMed: 28963390
DOI: 10.1136/bcr-2017-221827