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↑ 1.0 1.1 Noonan Syndrome: Practice Essentials. Available from: https://emedicine.medscape.com/article/947504-overview#a4 ( accessed 14 September, 2020)

↑ Allen MJ, Sharma S. Noonan Syndrome. InStatPearls [Internet] 2021 Jul 25. StatPearls Publishing.Available: https://www.ncbi.nlm.nih.gov/books/NBK532269/ (accessed 4.3.2022)

↑ 3.0 3.1 3.2 Health Direct Noonan Syndrome Available: https://www.healthdirect.gov.au/noonan-syndrome (accessed 4.3.2022)

↑ Radiopedia Noonan Syndrome Available: https://radiopaedia.org/articles/noonan-syndrome (accessed 4.3.2022)

↑ 5.0 5.1 5.2 Noonan Syndrome. Available from: https://www.mayoclinic.org/diseases-conditions/noonan-syndrome/symptoms-causes/syc-20354422 ( accessed 15 September, 2020)

↑ Van der Burgt I. Noonan syndrome. Orphanet journal of rare diseases. 2007 Dec;2(1):1-6.

↑ Bhambhani V, Muenke M. Noonan syndrome. Am Fam Physician. 2014; 89(1):37-43.

↑ Noonan Syndrome - Genetics Home Reference. U.S National Library of Medicine. Available from: https://ghr.nlm.nih.gov/condition/noonan-syndrome#sourcesforpage (accessed 19 September, 2020)

↑ Allanson, JE. Noonan Syndrome. Journal of Medical Genetics,1987, 4: 9-13

↑ 10.0 10.1 Noonan syndrome - Treatment [Internet]. nhs.uk. 2020 [cited 25 September 2020]. Available from: https://www.nhs.uk/conditions/noonan-syndrome/treatment/

↑ Noonan Syndrome. Available from https://www.stjude.org/disease/noonan-syndrome.html ( accessed 22 September, 2020)

↑ 4. [Internet]. Bigleapsct.com. 2020 [cited 25 September 2020]. Available from: https://www.bigleapsct.com/single-post/2016/05/16/Noonan-Syndrome

↑ Croonen EA, Harmsen M, Van der Burgt I, Draaisma JM, Noordam K, Essink M, Nijhuis‐van der Sanden MW. Perceived motor problems in daily life: Focus group interviews with people with Noonan syndrome and their relatives. American Journal of Medical Genetics Part A. 2016 Sep;170(9):2349-56.

↑ Noonan Syndrome. Available from: http://pennstatehershey.adam.com/content.aspx?productid=112&pid=1&gid=001656 (Accessed 4 October 2020)

↑ Noonan Syndrome. Available from: https://rarediseases.info.nih.gov/diseases/10955/noonan-syndrome ( Accessed 28 September, 2020)

↑ Noonan Foundation. Overview of the genetics of Noonan syndrome. Available from: http://www.youtube.com/watch?v=28ID5WP2lAw&t=327s [last accessed 3/10/2020]

↑ The Traveling Awareness Bears. Noonan Syyndrome Awarenenss. Available from: http://www.youtube.com/watch?v=Ctp6Msz3Kgc [last accessed 3/10/2020]





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Noonan syndrome (NS) is a rare autosomal dominant condition or a genetic mutation present from birth, that causes a distinctive appearance and a range of health problems [1] . The most consistent features are wide-set eyes, low-set ears, short stature, and pulmonic stenosis. [2] People with Noonan syndrome may be mildly affected, or more severely affected. Noonan syndrome develops in a baby before birth. Sometimes, the disorder is diagnosed straight away, but some children with mild symptoms aren't diagnosed until they get older. [3]

Noonan and Ehmke were the first to describe a succession of patients with the same similarities including unusual facies and multiple malformations like congenital heart disease. These patients were previously thought to have a form of Turner Syndrome, which has a lot of similarities in its clinical features with Noonan Syndrome. [1]

The estimated incidence is at ~1 in 1000-2500. As individuals have normal number of chromosomes, both males and females can be affected. [4] 

The inheritance is autosomal dominant although a significant proportion of cases are sporadic. Many genes have been implicated, the most common being the PTPN11 gene which encodes for SHP2, which results in an inability to inactivate SHP2 causing increased signalling of the Ras/MAPK pathway.

There are 2 types of mutations that cause Noonan Syndrome:

NS is most often characterized by facial and musculoskeletal features. Although these features are more present during early childhood, they change over time and appear less characteristic during adulthood:

Many infants with NS also have heart (cardiac) defects such as

The following characteristics are also seen among individuals with NS:

Individuals with NS may also present less common problems including:

Diagnosis is usually based on the child’s appearance and health problems, and is confirmed with genetic testing. This will involve a blood test. Further tests may be needed and include: heart investigations including an electrocardiogram (ECG) and echocardiogram (ultrasound). [3]

Several conditions identified as RASopathies have similarities with NS. These conditions all have similar signs and symptoms and are caused by changes in the same cell signaling pathway. Besides NS, the RASopathies consist of cardiofaciocutaneous syndrome, Costello syndrome, Neurofibromatosis type 1, Legius syndrome, and Noonan syndrome with multiple lentigines. [8] The differential diagnosis, therefore, includes Williams syndrome , intrauterine exposure to primidone, fetal alcohol syndrome, and Aarskog syndrome. Other cardiocutaneous syndromes such as LEOPARD syndrome, Neurofibromatosis, and Watson syndrome have a markedly overlapping phenotype. [9]

Living with Noonan syndrome: Most children with Noonan syndrome go on to lead normal lives in adulthood. However, a child newly diagnosed with the disorder may need a number of treatments, and regular tests to monitor their condition over time. The types of treatment and support required will depend on the problems they experience [3] . A regular comprehensive follow-up in a multidisciplinary approach is needed to manage the medical and developmental complications of Noonan syndrome. [5]

The medical treatment will focus on problems such as:

People of any age with Noonan syndrome may be at an increased risk of cancer. They need to adopt healthy habits throughout life. It is imperative that they regularly do have physical checkups and screenings. [11]

In addition to medical management, patients may need to be referred for physiotherapy. The physiotherapy treatment will focus on patient education, improvement of the range of motion; strengthening exercises as well as pain management.

Early Intervention is crucial for a child diagnosed with Noonan Syndrome as they have delayed motor milestones . The following exercises improve and maintain flexibility, endurance, strength, coordination, and balance in children with NS: [12]

In their study on perceived motor problems in daily life, Croonen et.al (2016); showed that people with NS reported particular problems related to pain; decreased muscle strength, fatigue, and clumsiness and their evident impact on functioning in their daily activities. Most people with NS believed that exercise, appropriate physiotherapy advice, and other supportive intervention are key elements to improved motor performance. [13]

There is no known way to prevent Noonan Syndrome because it occurs spontaneously, However, it is recommended that people with a history of NS get genetic counseling before they have children. [14] If Noonan syndrome is detected early, it's possible that ongoing and comprehensive care may lessen some of its complications such as heart disease. [5]

Noonan Syndrome is a lifelong condition. People with NS are differently affected and therefore their life expectancy will depend on the presence and severity of congenital heart defects Noonan Syndrome. Available from: [15]

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Skin lesions occurring over the knuckles can be a primary or characteristic manifestation of a disorder. Characteristic knuckle lesions may also be important cutaneous features of various internal disorders when they serve as useful clinical pointers, as well as may speak of the disease severity in certain instances. Furthermore, knuckle lesions also speak of various external factors as the underlying cause of the disease/lesions, such as trauma – occupational or otherwise, and contact dermatitis. Although knuckles essentially imply dorsal aspect of the metacarpophalangeal joints, many of the lesions described as those 'involving the knuckles' are seen over the proximal and/or less frequently, the distal interphalangel joints as well. This review presents a compilation of various inherited and acquired dermatoses and dermatological manifestations of various internal disorders associated with different forms of knuckle lesions.
Content may be subject to copyright.
805 © 2021 Indian Dermatology Online Journal | Published by Wolters Kluwer - Medknow
Involvement of knuckles is seen in a
variety of primarily cutaneous and internal
disorders. The relevance of knuckle lesions
lies in the fact that they may be the
predominant, characteristic, or exclusive
site of involvement reecting on to the
nature of the diseases that favour exposed,
repetitively trauma‑prone areas, or areas
comingrepeatedly incontact withoending
agents.Furthermore, certainknuckle lesions
form an important component of many
genodermatosesand alsoserve ascutaneous
markers of internal diseases. T able 1 lists
the dierent forms of knuckle lesions seen
Knuckle pads are a form of supercial
bromatoses characterized by thickened
skin‑colored papulonodules predominantly
involving the proximal interphalangeal
joints, commonly seen in the Whites.
They generally appear between 15 and
30 years of age, slowly enlarge and persist
throughout the life. [1,2]  Knuckle pads can
be broadly grouped into idiopathic and
those in association with inherited and
acquired disorders [Table 2]. These ‘true’
knuckle pads are dierentiated from the
‘pseudo‑knucklepads’bytheir development
Skin lesions occurring over the knuckles can be a primary or characteristic manifestation of a
disorder.Characteristic knuckle lesionsmay also be importantcutaneous features of various internal
disorders when they serve as useful clinical pointers, as well as may speak of the disease severity
in certain instances. Furthermore, knuckle lesions also speak of various external factors as the
underlying cause of the disease/lesions, such as trauma – occupational or otherwise, and contact
dermatitis. Although knuckles essentially imply dorsal aspect of the metacarpophalangeal joints,
many of the lesions described as those ‘involving the knuckles’are seen over the proximal and/or
lessfrequently, thedistal interphalangeljoints as well.This reviewpresents a compilationof various
inherited and acquired dermatoses and dermatological manifestations of various internal disorders
associatedwith dierent formsof knuckle lesions.
Keywords: Acquired disor ders, inherited disorders, knuckles
Knuckle lesions in inherited and acquired disorders
How to cite this article: Adya KA, Inamadar AC,
Palit A, Shivanna R. Knuckle lesions in inherited
and acquired disorders. Indian Dermatol Online J
Received: 27-Jun-2021. Revised: 05-Jul-2021.
Accepted: 29-Jul-2021. Published: 22-Nov-2021.
This is an open access journal, and arcles are
distributed under the terms of the Creave Commons
Aribuon‑NonCommercial‑ShareAlike 4.0 License, which
allows others to remix, tweak, and build upon the work
non‑commercially, as long as appropriate credit is given and the
new creaons are licensed under the idencal terms.
For reprints contact: WKHLRPMedknow_reprints@wolter skluwer .com
being spontaneous and unrelated to trauma,
being asymptomatic, and being persistent.
The ‘pseudo‑knuckle pads’ are essentially
callosities, developing due to repetitive
trauma or friction. They are seen in certain
clinical conditions and as occupational or
sports related dermatoses. They typically
regress upon removal of the precipitating
Isolated knuckle pads are commonly
sporadic cases. Isolated familial form,
often inherited as autosomal dominant trait
has also been described but is quite rare
and most of the familial forms of knuckle
pads are associated with other inherited
disorders as discussed below and outlined
Most of the familial forms of knuckle
pads are associated autosomal dominant
palmoplantar keratodermas summarized in
Table3. [4]  Other familialdisorders in which
the knuckle pads can be seen are described
Camptodactyly refers to uni‑ or bilateral
xed exion deformity of the proximal
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Adya, et al .: Knuckle lesions in inherited and acquired disorders
806 Indian Dermatology Online Journal | Volume 12 | Issue 6 | November-December 2021
interphalangealjointof littlengers.Manycases aresporadic
but autosomal dominant inheritance has been described as
well.Association with knuckle pads has been described and
aplausible genetic basis hasbeen proposed aswell. [5‑8]
Acrokeratoelastoidosis of Costa is a rare disorder
characterized by discrete and conuent keratotic papular
lesions, typically involving the sides of the ngers and
hands. The childhood form has an autosomal dominant
pattern of inheritance and adult onset forms are usually
sporadic. [9]  Knuckle pads and knuckle pad‑like keratosis
have beendescribed in associationwith the disease. [10,11]
Keratosis punctata of plamar creases
Keratosis punctata of palmar creases is an autosomal
dominant or sporadic disorder characterized by multiple,
well‑dened punctate pits conspicuously involving the
palmar creases. This benign entity may be associated
with striate keratoderma, Dupuytren contracture, and
knuckle pads. It should be dierentiated from keratosis
punctata palmoplantaris,which is characterizedby multiple
palmoplantar pits and being associated with atopy, nail
dystrophyand colorectal malignancy. [12,13]
Pseudoxanthoma elasticum is an autosomal recessive
disorder of connective tissue characterizedby elastorrhexia
T able 1: Knuckle lesions in various dermatoses
Types of lesions Associated disorders
V asculopathic ulcers in dermatomyositis
Types of lesions Associated disorders
Pigmentarylesions Duetoexcessadrenocorticotrophic
Depressions Albright’ s hereditary osteodystr ophy
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Adya, et al .: Knuckle lesions in inherited and acquired disorders
807 Indian Dermatology Online Journal | Volume 12 | Issue 6 | November-December 2021
withprogressivecalcicationofelastic berspredominantly
of the skin, retina, and cardiovascular systems. [14]  Knuckle
pads involving the thumb have also been described in
associationwith the disorder. [15]
Peeling skin, leukonychia, acral keratoses, cheilitis, and
Thepeelingskin, leukonychia,acralkeratoses, cheilitis,and
knucklepads (PLACK)syndromeis anautosomalrecessive
form of generalized peeling skin syndrome aecting the
pediatric age group and characterized by generalized
peeling, punctate keratoses on the palms and soles, dorsal
aspect of the toes, leukonychia, cheilits, and knuckle pads.
Other abnormalities described in various reports include
follicular hyperkeratosis, facial telangiectasia, woolly hair,
and sparseeyebrows and eyelashes. [16,17]
Knuckle pads associated with acquired disorders
Knuckle pads are seen in association with supercial
bromatoses, such as Dupuytren contracture, Ledderhose
disease,and Peyronie’sdisease. Knucklepads are alsoseen
T able 2: Knuckle pads in various dermatoses
Inheriteddisorders Idiopathic (familial and sporadic)
Associated with inherited palmoplantar keratodermas
Epidermolyticpalmoplantarkeratoderma
Gamborg‑Nielsenpalmoplantarkeratoderma
Palmoplantarkeratodermaanddeafnesssyndrome
Associated with other inherited disorders
Keratosispunctataofplamarcreases
Peelingskin,leukonychia,acralkeratoses,cheilitisandknucklepads(PLACK)syndrome
Acquireddisorders Associated with bromatosis
Traumatic or friction associated (pseudo-knuckle pads)
Occupational:Incarpetlayers,tailors,sheepshearers,livechickenhangers,pillarknockers
Athletes:Boxers,surfers,footballplayers,othersports(athletesnodules)
Obsessivecompulsivedisorders(chewingpads,habitualknucklecracking)
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Adya, et al .: Knuckle lesions in inherited and acquired disorders
808 Indian Dermatology Online Journal | Volume 12 | Issue 6 | November-December 2021
as a component of polybromatosis syndrome associated
with keloids and bromatosis involving the penile and
palmoplantar tissues. [1,3] Knuckle pads are alsodescribed in
Knucklepadshave alsobeenreported inassociationwith nger
clubbing, oral leukoplakia, glossitis, seborrheic dermatitis,
vitamin A  deciency [Figure 1b], and phenytoin therapy . [2,3] 
Knuckle pads have also been reported in esophageal cancer
with oralleukoplakia and keratosispilaris. [20]
Pseudo‑knuckle pads are callosities [Figure 2] developing
as a result of repeated trauma, disappearing gradually on
removal of the precip
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