Adiposogenital dystrophy differential diagnosis

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Ogechukwu Hannah Nnabude, MD

Overview

Adiposogenital dystrophy must be differentiated from other diseases that cause polyphagia, obesity, and a delayed puberty such as Prader-Willi syndrome, Bardet-Biedl syndrome, Borjeson syndrome and Klinefelter's syndrome.

Differentiating Adiposogenital Dystrophy from Other Diseases

Disease/Condition Clinical presentation Demographics/History Diagnosis Treatment
Adiposogenital Dystrophy

Partial destruction of hypothalamic nuclei resulting in hormonal dysfunction with obesity, growth retardation, and hypogonadism. Deep brain stimulation may also cause symptoms similar to adiposogenital syndrome [1] [2].

Prevalence is unknown, but it is more common in males [3] [4]

Diagnosis is based on visual field tests, hormonal assays, CT, MRI, autoimmune assays [5]

  • Diet and exercise
  • Radiation
  • Surgery, thermoablation, radiosurgery
  • Hormone replacement[6]
Prader-Willi Syndrome

It presents with hyperphagia, hypogonadism, truncal obesity, intellectual disability, growth delay, hypotonia, almond-shaped palpebral fissures, narrow frontal diameter, thin upper vermilion with downturned corners of the mouth behavioral problems such as anxiety and temper outbursts [7]

Prader Willi Syndrome has a prevalence of 1 in every 1 in 20000 to 1 in 30000 births[8]. Females and males can be equally affected, and there is no difference between races and ethnicities[9]. Most cases of Prader Willi syndrome are sporadic, but familial cases can present when the paternal genes carry a microdeletion in the imprinting center inherited from his mother[10].

  • Hormone replacement[11]
  • Cognitive and behavioral therapy[12]
Bardet-Biedl Syndrome
  • It is a rare autosomal recessive genetic disorder. [13]. Males and females are affected equally
  • Hair pull test followed by trichogram reveals numerous clubbed-shaped hairs; telogen count must exceed 20% for diagnosis.
  • It could be an acute self-limiting form triggered by stressors such as crash diets, childbirth, febrile illness, or psychological stress.
  • It may be chronic and present in association with female pattern hair loss.
Borjeson Syndrome [14] [15] [16] [17] [16]
  • Hair loss at regions of the scalp exposed to tension on hair follicles for a prolonged period of time in people who make tight hairstyles.
  • Traction alopecia is more commonly seen among black populations with females being affected more often than males at a rate of about 31,000-32,000 per 100,000 women compared to about 2,300 per 100,000 men.
  • Traction alopecia is seen in about 18,000 per 100,000 girls between the ages of 5.4 to 14.3 years based on a study of African-American girls.
  • Mostly a clinical diagnosis based on hair loss at areas of the scalp where tension on the hair is highest.
  • Early detection and switching to more loose hairstyles may reverse the condition, however, with prolonged tension on the scalp destruction of the hair follicles will occur, causing the condition to become irreversible.
Klinefelter Syndrome [18] [19] [20] [21] [22] [23]
  • Presents in diverse ways such as ordinary scaling without any obvious hair loss which is considered to be a seborrheic form, a crusted or pustular form that may be localized or diffuse, a ‘black dot’ type that is characterized by tiny black dots within regions of alopecia, an inflammatory mass called kerion, and a round, bald, scaly patch where the follicular ostia are filled with keratinous debris.
  • A unique feature of tinea capitas is the presence of post-auricular and cervical lymphadenopathy.
  • It is more common in the pediatric population.
  • Potassium hydroxide preparation can be added to skin scrapings of affected areas in order to diagnose the condition. [15]
  • Wood's light can also be used in diagnosis as majority of Microsporum spp will appear bluish-green, occasionally dull yellow (Microsporum gypseum) and dull blue (Trichophyton schoenleinii).
  • In the U.S., under 5% of cases will show fluorescence.
  • Possible complications of tinea capitas are kerion, an abscess in the scalp, or favus, another inflammatory form in which there is honeycomb destruction of the hair shaft. Both are severe forms of the disease and can cause permanent scarring.


References

  1. Tuite PJ, Maxwell RE, Ikramuddin S, Kotz CM, Kotzd CM, Billington CJ; et al. (2005). "Weight and body mass index in Parkinson's disease patients after deep brain stimulation surgery". Parkinsonism Relat Disord. 11 (4): 247–52. doi:10.1016/j.parkreldis.2005.01.006. PMID 15878586.
  2. Romito LM, Scerrati M, Contarino MF, Iacoangeli M, Bentivoglio AR, Albanese A (2003) Bilateral high frequency subthalamic stimulation in Parkinson’s disease: long-term neurological follow-up. J Neurosurg Sci 47:119–128 Medline
  3. Babinski-fröhlich syndrome. Bissonnette B, & Luginbuehl I, & Marciniak B, & Dalens B.J.(Eds.), (2006). Syndromes: Rapid Recognition and Perioperative Implications. McGraw Hill. https://accessanesthesiology.mhmedical.com/content.aspx?bookid=852&sectionid=49517244
  4. Burfeind KG, Yadav V, Marks DL. Hypothalamic Dysfunction and Multiple Sclerosis: Implications for Fatigue and Weight Dysregulation. Curr Neurol Neurosci Rep. 2016 Nov;16(11):98.
  5. Sanchez Jimenez JG, De Jesus O. Hypothalamic Dysfunction. [Updated 2021 Aug 30]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2021 Jan-
  6. Sanchez Jimenez JG, De Jesus O. Hypothalamic Dysfunction. [Updated 2021 Aug 30]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2021 Jan-
  7. Fermin Gutierrez MA, Mendez MD. Prader-Willi Syndrome. [Updated 2021 Aug 11]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2021 Jan-.
  8. Pacoricona Alfaro DL, Lemoine P, Ehlinger V, Molinas C, Diene G, Valette M; et al. (2019). "Causes of death in Prader-Willi syndrome: lessons from 11 years' experience of a national reference center". Orphanet J Rare Dis. 14 (1): 238. doi:10.1186/s13023-019-1214-2. PMC 6829836 Check |pmc= value (help). PMID 31684997.
  9. Bohonowych J, Miller J, McCandless SE, Strong TV (2019). "The Global Prader-Willi Syndrome Registry: Development, Launch, and Early Demographics". Genes (Basel). 10 (9). doi:10.3390/genes10090713. PMC 6770999 Check |pmc= value (help). PMID 31540108.
  10. 10.0 10.1 Butler MG, Manzardo AM, Forster JL (2016). "Prader-Willi Syndrome: Clinical Genetics and Diagnostic Aspects with Treatment Approaches". Curr Pediatr Rev. 12 (2): 136–66. doi:10.2174/1573396312666151123115250. PMC 6742515 Check |pmc= value (help). PMID 26592417.
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  12. Passone CBG, Pasqualucci PL, Franco RR, Ito SS, Mattar LBF, Koiffmann CP; et al. (2018). "PRADER-WILLI SYNDROME: WHAT IS THE GENERAL PEDIATRICIAN SUPPOSED TO DO? - A REVIEW". Rev Paul Pediatr. 36 (3): 345–352. doi:10.1590/1984-0462/;2018;36;3;00003. PMC 6202899. PMID 30365815.
  13. Suspitsin EN, Imyanitov EN (2016). "Bardet-Biedl Syndrome". Mol Syndromol. 7 (2): 62–71. doi:10.1159/000445491. PMC 4906432. PMID 27385962.
  14. Otberg N, Shapiro J 2012. Hair growth disorders. In Fitzpatrick’s dermatology in general medicine, 8th ed (ed. Goldsmith LA, et al.). McGraw-Hill, New York [Google Scholar]
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  16. 16.0 16.1 Callender VD, McMichael AJ, Cohen GF (2004). "Medical and surgical therapies for alopecias in black women". Dermatol Ther. 17 (2): 164–76. doi:10.1111/j.1396-0296.2004.04017.x. PMID 15113284.
  17. Aguado Lobo M, Jiménez-Reyes J (2018). dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=29265342 "Traction alopecia" Check |url= value (help). Int J Dermatol. 57 (2): 231–232. doi:10.1111/ijd.13846. PMID 29265342.
  18. "StatPearls". 2020. PMID 30725594.
  19. Pomeranz AJ, Sabnis SS (2002). "Tinea capitis: epidemiology, diagnosis and management strategies". Paediatr Drugs. 4 (12): 779–83. doi:10.2165/00128072-200204120-00002. PMID 12431130.
  20. Kos L, Conlon J (2009). "An update on alopecia areata". Curr Opin Pediatr. 21 (4): 475–80. doi:10.1097/MOP.0b013e32832db986. PMID 19502982.
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  23. Vidal CI (2015). "Overview of Alopecia: A Dermatopathologist's Perspective". Mo Med. 112 (4): 308–12. PMC 6170065. PMID 26455063.

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