Lysosomal, sterol and lipid disorders
Steve Hannigan in Inherited Metabolic Diseases: A Guide to 100 Conditions, 2018
Symptoms usually present soon after birth, and include a loss of fat beneath the skin (lipoatrophy), overdeveloped and prominent muscles (muscular hypertrophy), enlargement of the liver (hepatomegaly), and resistance to insulin (both natural and synthetic), which controls blood sugar levels, leading to diabetes mellitus. Other symptoms include darkening and thickening of patches of skin (acanthosis nigricans) and high levels of fats in the blood (hypertriglyceridaemia). There is commonly excessive production of a hormone that causes accelerated growth in height and precocious puberty in childhood, and in adults enlarged hands and feet (acromegaly), prominent ridges above the eyes (supraorbital ridges), enlargement of the upper or lower jaw (prognathism), and enlargement of the genitalia. Other symptoms that may occur in some individuals include excessive production of body hair (hirsutism), a delay in mental development, enlargement of the heart (hypertrophic cardiomyo-pathy), bone cysts, and a prominence of veins (phlebomegaly) in the upper and lower limbs. Acute inlammation of the pancreas (pancreatitis) may also occur.
Skin
Keith Hopcroft, Vincent Forte in Symptom Sorter, 2020
Small print: Investigations to assess for any underlying cause of acanthosis nigricans. Skin scrapings: Occasionally needed to confirm a fungal infection if this is in doubt.Swabs: Occasionally needed to confirm a suspected staphylococcal infection.Investigations to assess for any underlying cause of acanthosis nigricans: This condition is associated with a number of systemic conditions, which might require investigation, depending on the clinical circumstance. This might involve HbA1c or blood sugar for diabetes, LH, FSH, testosterone, SHBG and pelvic ultrasound for PCOS, and hospital-based investigations if an underlying malignancy (especially gastrointestinal) is suspected.
Seborrheic keratosis
Miranda A. Farage, Howard I. Maibach in The Vulva, 2017
The Leser–Trélat sign is a paraneoplastic cutaneous manifestation characterized by an abrupt and striking increase in the number and/or size of SKs occurring before, during, or after an internal malignancy (11). Pruritus is present in nearly half of patients. It is associated with malignant acanthosis nigricans in about 35% of patients (40). Acquired ichthyosis, Cowden’s disease, acrokeratosis paraneoplastica, hypertricosis lanuginosa, fluorid cutaneous papillomatosis, and tylosis can also be observed with the Leser–Trélat sign (41). Adenocarcinomas of the stomach and colon account for the majority of malignancies, with the second most common being lymphoproliferative disorders, including leukemias, lymphomas, Sezary syndrome, and mycosis fungoides; others such as breast, pancreas, kidney, and lung cancers and melanoma have been reported (40,42).
Monogenic forms of lipodystrophic syndromes: diagnosis, detection, and practical management considerations from clinical cases
Published in Current Medical Research and Opinion, 2019
Camille Vatier, Marie-Christine Vantyghem, Caroline Storey, Isabelle Jéru, Sophie Christin-Maitre, Bruno Fève, Olivier Lascols, Jacques Beltrand, Jean-Claude Carel, Corinne Vigouroux, Elise Bismuth
Lipodystrophies are rare diseases, and the diagnosis is often overlooked33. LMNA-related lipodystrophy characteristics (e.g. generalized or partial fat atrophy with metabolic changes and insulin resistance) may be due to altered differentiation of adipocytes or changed fat structure34. The principal feature of FPLD2 is loss of fat, commencing at about pubertal age in women, in the buttocks, hips, limbs, and trunk, together with accumulation of fat in the axillae, back, face, labia majora, and visceral region. This distribution of fat, coupled with enhanced and well-defined musculature, means that affected women take on an android appearance. Further, phlebomegaly is often present in the upper and lower limbs, and the hands tend to be broad with small digits. Acanthosis nigricans in the axillae and neck and acrochordons, as signs of insulin resistance, are not infrequent. Women with FPLD2 frequently present with gynecologic disorders such as gestational diabetes, miscarriage, polycystic ovarian syndrome, and stillbirth35. In men, the abovementioned fat-loss changes occur later and are less evident; indeed, men with FPLD2 are typically diagnosed from female kin. Although subcutaneous lipomas are not present in all cases36, their presence should make physicians suspect FPLD2 when a background FPLD phenotype exists. The cardiovascular diversity of FPLD2 is broad and includes early atherosclerotic disease, arrhythmias, hypertrophic cardiomyopathy, and valvulopathies. Atherosclerotic disease and metabolic disturbances are less frequent in men than women with FPLD237.
Relation between cutaneous and extracutaneous complications in pediatric patients with type 1 diabetes
Published in Dermato-Endocrinology, 2018
M. I. Kamel, Y. I. Elhenawy, W. M. Saudi
Keratosis pilaris, though not considered a diabetes-related cutaneous manifestation, was significantly more common (17.5%) in patients with type 1 diabetes than in control subjects (4%) (P< 0.05). In the current study, keratosis pilaris was best correlated with xerosis (R = 0.6, p<0.01, β-coefficient = 0.71). Pruritus, localized or generalized without any skin lesions were present in 20% of cases compared to 12% in healthy controls (P<0.05). Among the diabetic cohort, the difference in prevelance of pruritis was non-significant in both patients with and without microalbuminuria (P > 0.05). Other cutaneous affection registered in the current study (acne, eczema, atopic dermatitis and pigmentary lesions) showed no difference between both patients and healthy controls. One patient showed acanthosis nigricans, the patient was male with 10 years duration of diabetes and poor glycemic control (HbA1c = 10.6%).
A new type of familial partial lipodystrophy: distinctive fat distribution and proteinuria
Published in Endocrine Research, 2018
Banu Yurekli, Nilufer Ozdemir Kutbay, Canan Altay, Sadiye Mehtat Unlu, Sait Sen, Huseyin Onay, Tahir Atik, Baris Akinci
The index case was a 35-year-old female patient (subject-1) who presented to our endocrine clinic with poorly controlled diabetes despite being treated with metformin 2 g/day and gliclazide 60 mg/day. Lipoatrophy was remarkable on her extremities, and her musculature was prominent. Abdominal sc fat was decreased. She appeared to have a slight increase in facial fat. Her body mass index (BMI) was 19.5 kg/m2. Acanthosis nigricans was visible on the neck and axillary region. She reported that she first noticed fat loss on her extremities when she was 16 years old. She was diagnosed with hypertriglyceridemia when she was 33. She did not report any history suggestive of any previous autoimmune diseases. Her C3 level was 124 mg/dL (90–180). She reported having had irregular menstrual cycles since the onset of puberty. She previously had one miscarriage. Polycystic ovaries (PCO) were visible on US. Hepatic steatosis was detected. Partial lipodystrophy was demonstrated on WB-MRI (Figure 1A and B). Proteinuria was detected on a urine test, although there was no sign of diabetic retinopathy. Her blood pressure was within normal limits. Her diabetes treatment was switched to metformin and intensive insulin (insulin aspart 16 units three times a day and insulin detemir 22 units once a day). Fenofibrate 267 mg/day was started for hypertriglyceridemia. An angiotensin-converting enzyme inhibitor (ACEI) (ramipril 5 mg/day) was prescribed to treat her proteinuria. The patient’s renal function remained stable in the short term, and the level of proteinuria decreased from 890 to 674 mg/day 9 months after treatment with ACEI.
Related Knowledge Centers
- Endocrine Disease
- Groin
- Hyperinsulinemia
- Insulin Resistance
- Skin
- Axilla
- Neck
- Hyperpigmentation
- Navel
- Forehead