Ackerman syndrome

Ackerman syndrome

Ackerman syndrome is an uncommon and under-recognised cause of arthritis with dermatitis.

It is associated with various autoimmune conditions.

The clinical and laboratory findings are mainly non-specific, and the most important diagnostic tool for this condition is a skin biopsy.

A rare multiple congenital anomalies/dysmorphic syndrome characterized by a variable combination of dental, cutaneous, ocular, and bone abnormalities, including

  • Pyramidal and fused molar roots
  • Taurodontism
  • An abnormal upper lip without a cupid’s bow and thickened and wide philtrum
  • Juvenile glaucoma
  • Syndactyly
  • Clinodactyly

There have been no further descriptions in the literature since 1973.

Synonyms

Ackerman fused molar roots syndrome

Incidence

How common is Ackerman syndrome?

<1 /1000000

Inheritance

Autosomal recessive 

Age of Onset

Childhood

What are the symptoms of Ackerman syndrome?

  • The combination of dental, cutaneous, ocular, and bone abnormalities has been first described by Ackerman et al in 1973 in 20 members of a non-consanguineous family of English-German ancestry.
  • Affected patients showed various abnormalities of the molar roots (pyramidal, mesotaurodont, hypertaurodont, or fused roots with often a single root canal only).
  • Other, although widely inconsistent, ectodermal and mesodermal anomalies included unusual shape of the upper lip lacking cupid’s bow with thickening and widening of the philtrum, entropium of the lower eyelids, juvenile glaucoma, clinodactyly, syndactyly (hand or foot), scant body hair with only vellus hair in the beard area, and horizontal ridging of fingernails with distal onychoschizia.

A case of a middle-aged woman who presented with acute onset of non-erosive oligoarthritis and cutaneous lesions. Her laboratory work up revealed mild anaemia with positive antinuclear antibody.

Her skin biopsy confirmed the presence of interstitial granulomatous dermatitis.

She was treated with a successful trial of non-steroidal anti-inflammatory agents. Interstitial granulomatous dermatitis with arthritis (IGDA), or Ackerman syndrome, is an under-recognised cause of arthritis with dermatitis.

This is primarily due to the varied clinical presentation of the skin lesions and the non-specific laboratory findings.

The aim of this study is to highlight the pivotal role of skin biopsy as part of the diagnostic assessment of patients who present with arthritis and concomitant skin lesions.

When IGD occurs in association with arthritis, it is known as interstitial granulomatous dermatitis with arthritis (IGDA), or Ackerman syndrome. This uncommon condition was initially described by Ackerman in 1993.

His description initiated a series of case reports that described similar patients.

Ackerman syndrome typically affects middle-aged women.

The dermatological manifestations are extremely variable and include multiple, symmetric, erythematous to violaceous papules, nodules or plaques.

However, the hallmark of this condition is the characteristic ‘rope-sign’, in the form of palpable subcutaneous linear cords that typically occur in the axilla. Nevertheless, this finding occurs only in a minor subgroup of patients.

The joint manifestation is commonly in the form of non-erosive, seronegative arthritis or arthralgia; this may occur at any stage of cutaneous manifestation, that is, prior to, during or even after the onset of dermatological eruptions.

How is this condition diagnosed?

  • The laboratory abnormalities include ANA positivity, elevated ESR, mild anaemia and leucopaenia
  • Owing to the rarity of the condition, the experience for treatment of IGDA is not well established and response to various therapeutic agents is limited to scattered case reports in the literature.
  • The associated conditions, for example, SLE or rheumatoid arthritis, could have a significant role in influencing the choice of agents.

How is Ackerman syndrome treated?

  • Treatment options include non-steroidal anti-inflammatory drugs, topical steroids, systemic steroids or any combination of these agents.
  • Other available options for more resistant cases include methotrexate, anti-TNF agents, toclizumab, ustekinumab and IVIG.
  • Nevertheless, the specific indication for each class of therapeutic agent is still not clearly defined.

What is the prognosis?

  • The prognosis of IGDA is variable.
  • At times it could be a self-limiting condition with a documented spontaneous resolution.
  • On the other hand, it may have an undulating course with frequent flares that are resistant to various therapeutic agents.
15585

Sign up to receive the trending updates and tons of Health Tips

Join SeekhealthZ and never miss the latest health information

15856