Syndrome of Insulin Resistance with Acanthosis Nigricans, Acral Hypertrophy and Muscle Cramps in an Adolescent – A Rare Diagnosis Revisited

Ghosh, Urmi; Thomas, Maya; Mathai, Sarah

doi:10.1007/s12098-014-1503-7

Cited by 2 publications

(2 citation statements)

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“…Of note, the association between IR and muscle involvement is not unique to SOFT syndrome, however. The entity ‘acanthosis nigricans with muscle cramps and acral enlargement’ (MIM 200170), was described in 1980 ( 32 , 33 ) and features of severe IR with phenytoin-responsive muscle cramps have been reported ( 33 , 34 ). No features clearly conforming to SOFT syndrome were described.…”

Section: Discussionmentioning

confidence: 99%

Biallelic POC1A variants cause syndromic severe insulin resistance with muscle cramps

Mericq

Huang-Doran

Alnaqeb³

et al. 2022

European Journal of Endocrinology

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Objective: To describe clinical, laboratory and genetic characteristics of three unrelated cases from Chile, Portugal and Saudi Arabia with severe insulin resistance, SOFT syndrome, and bi-allelic pathogenic POC1A variants. Design: Observational study. Methods: Probands’ phenotypes, including short stature, dysmorphism and insulin resistance, were compared with previous reports. Results: Cases 1 (female) and 3 (male) were homozygous for known pathogenic POC1A variants: c.649C>T, p.(Arg217Trp) and c.241C>T, p.(Arg81*), respectively. Case 2 (male) was compound heterozygous for p.(Arg217Trp) variant and the rare missense variant c.370G>A, p.(Asp124Asn). All three cases exhibited severe insulin resistance, acanthosis nigricans, elevated serum triglycerides and decreased HDL-cholesterol, and fatty liver, resembling three previously reported cases. All three also reported severe muscle cramps. Aggregate analysis of the six known cases with bi-allelic POC1A variants and insulin resistance showed decreased birth weight and length [mean (SD) -2.8 (0.9) and -3.7 (0.9) SDS, respectively], severe short stature [mean (SD) height -4.9 (1.7) SDS] and moderate microcephaly [mean occipitofrontal circumference -3.0 (range -4.7 to -1.2)]. These findings were similar to those reported for patients with SOFT syndrome without insulin resistance. Muscle biopsy in Case 3 showed features of muscle involvement secondary to a neuropathic process. Conclusions: Patients with SOFT syndrome can develop severe dyslipidaemic insulin resistance, independent of the exonic position of the POC1A variant. They also can develop severe muscle cramps. After diagnosis, patients should be regularly screened for insulin resistance and muscle complaints.

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Section: Discussionmentioning

confidence: 99%

Biallelic POC1A variants cause syndromic severe insulin resistance with muscle cramps

Mericq

Huang-Doran

Alnaqeb³

et al. 2022

European Journal of Endocrinology

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“…Th ere is no specifi c therapy for AN. Phenytoin and metformin are used in insulin resistance (56); in benign and malignant forms topical therapy is used with varying success: retinoids, ammonium lactate, trichloroacetic acid, salicylic acid, podophyllin, urea, calcipotriol, dermabrasion, laser therapy; systemic therapy includes retinoids and PUVA, and cyproheptadine in MAN (5,(60)(61)(62). It is well known that paraneoplastic syndromes regress after cancer surgery, chemotherapy or radiotherapy, but may reappear with tumor recurrence or metastasis.…”

Section: Discussionmentioning

confidence: 99%

Malignant Acanthosis Nigricans, Florid Cutaneous Papillomatosis and Tripe Palms Syndrome Associated with Gastric Adenocarcinoma - a Case Report

Paravina

Ljubisavljević

2015

Serbian Journal of Dermatology and Venereology

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Malignant acanthosis nigricans is a rare obligate paraneoplastic dermatosis which accounts for 20% of all acanthosis nigricans cases. The clinical features of the disease are the same as in the benign forms: symmetrical, hyperpigmented, velvety papillomatous lesions mostly involving the axillae, neck, groins, periumbilical cubital and popliteal areas, mammary areolae and less often mucous membranes. However, unlike other forms, it is characterized by sudden onset and rapid spread, commonly (80%) after the age of 40, which may be a marker of malignancy and a key to early diagnosis, indicating the need for a detailed examination. It is a disorder that has no gender differences. Most cases are detected at the moment of cancer diagnosis (61.3%), in fewer cases (about 20%) prior to cancer diagnosis, and in 21% at a later stage of malignant disease. Acanthosis nigricans is usually associated with one of the three or all three forms of paraneoplastic lesions: florid cutaneous papillomatosis, acanthosis palmaris (tripe palms, pachydermatoglyphia) involving the palms and soles, as well as multiple seborrheic keratosis (sign of Leser-Trélat). We report on a female patient with clinically established three paraneoplastic syndromes: malignant acanthosis nigricans, florid cutaneous papillomatosis, and acanthosis palmaris, which appeared before the diagnosis of advanced gastric adenocarcinoma, leading to fatal outcome.

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Syndrome of Insulin Resistance with Acanthosis Nigricans, Acral Hypertrophy and Muscle Cramps in an Adolescent – A Rare Diagnosis Revisited

Abstract: The authors report a 14-y-old boy with insulin resistance, acanthosis nigricans, acral hypertrophy and muscle cramps. While there was a dramatic response of the muscle cramps to phenytoin therapy, some other features of metabolic syndrome did not respond to phenytoin therapy alone.

Cited by 2 publications

References 4 publications

Biallelic POC1A variants cause syndromic severe insulin resistance with muscle cramps

Biallelic POC1A variants cause syndromic severe insulin resistance with muscle cramps

Malignant Acanthosis Nigricans, Florid Cutaneous Papillomatosis and Tripe Palms Syndrome Associated with Gastric Adenocarcinoma - a Case Report

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