How rare is Cowden disease?

Cowden disease is classified as not well established. The estimated prevalence is approximately Unknown. Because rare disease data can be limited, actual numbers may differ from published estimates.

How is Cowden disease diagnosed?

Information about how the condition is diagnosed is currently limited for this condition.

Are there treatments for Cowden disease?

Information about treatment options and management approaches is currently limited for this condition.

What are the potential complications of Cowden disease?

Cowden disease can lead to the growth of benign tumors called hamartomas in various parts of the body. More importantly, it is associated with an increased risk for certain cancers, including breast, thyroid, endometrium, kidney, and colorectal cancers. This means that regular check-ups and monitoring are important for managing these risks.

How does Cowden disease affect daily life?

Living with Cowden disease may involve dealing with the presence of hamartomas, which can appear on the skin and other organs. Additionally, the increased risk of cancers means that individuals may need to have regular screenings and check-ups, which can impact daily routines. It's important for families to stay informed and work closely with healthcare providers to manage these aspects.

What is the prognosis for someone with Cowden disease?

The prognosis for individuals with Cowden disease can vary, but there is an increased risk for certain types of cancers. This makes ongoing monitoring and regular check-ups essential for early detection and management of any potential issues. While detailed long-term outlook information is limited, staying proactive about health can help improve quality of life.

What should families consider regarding family planning with Cowden disease?

Families affected by Cowden disease may want to consider genetic counseling when planning for children. Since Cowden disease is a genetic condition, there may be a risk of passing it on to future generations. Speaking with a genetic counselor can provide valuable information about the risks and options available.

Kisho

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Cowden disease - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

Cowden disease

MONDO:0016063

Also known as:Cowden's diseasemultiple hamartoma syndromeCD

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Overview

A genodermatosis characterized by the presence of multiple hamartomas in various tissues and an increased risk for malignancies of the breast, thyroid, endometrium, kidney and colorectum. When CS is accompanied by germline PTEN mutations, it belongs to the PTEN hamartoma tumor syndrome (PHTS) group.

Clinical Trials3 registered · 2 recruiting

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include very common findings: Goiter, Palmoplantar keratoderma, Breast carcinoma, and Generalized hyperkeratosis and others; and common findings: Abnormal penis morphology, Macroglossia, Furrowed tongue, and Macrocephaly and others. 57 total HPO annotations.

Organ System	Phenotype Count	Example Features
Skin	7	Palmoplantar keratoderma, Hypopigmented skin patches, Subcutaneous nodule

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

GeneReviews

Diagnostic Criteria

Suggestive Findings

The PTEN hamartoma tumor syndrome (PHTS) includes Cowden syndrome (CS), Bannayan-Riley-Ruvalcaba syndrome (BRRS), PTEN-related Proteus syndrome (PS), and PTEN-related Proteus-like syndrome. PTEN hamartoma tumor syndrome (PHTS) should be suspected in individuals with the following clinical features.

Cowden Syndrome (CS)

Based on more than 3,000 prospectively accrued cases of CS or Cowden-like syndrome (CLS) from the community, a scoring system (which can be found online) that takes into account phenotype and age at diagnosis has been developed. The scoring system allows input of clinical information on an individual suspected of having CS/CLS and subsequently generates the prior probability of finding a PTEN pathogenic variant.

Treatment

Compiled from FDA-approved drug records, orphan drug designations, and FDA Adverse Event Reporting System (FAERS) safety data. GeneReviews management guidance is included where available.

No approved treatments are currently available for Cowden disease. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

Evaluations and Surveillance Guidelines Following Initial Diagnosis

To establish the extent of disease and needs of an individual diagnosed with PTEN hamartoma tumor syndrome (PHTS), the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended. The most serious consequences of PHTS relate to the increased risk of cancers including breast, thyroid, endometrial, renal, and to a lesser extent, colon. In this regard, the most important aspect of management of any individual with a PTEN pathogenic variant is increased cancer surveillance to detect any tumors at the earliest, most treatable stages. Current suggested screening and surveillance by age are detailed in .

Prognosis

Phenotype severity distribution: 10 very common features, 19 common features.

Estimated prevalence: Unknown (Unknown prevalence).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

3 clinical trials registered, 2 recruiting. Interventions under study include other interventions and drug therapy. Pipeline includes 1 PHASE2. Research is primarily sponsored by academic and government institutions.

116 publications have been identified in PubMed for Cowden disease. Research spans Case Report / Case Series (52%), Review / Meta-Analysis (19%), and Epidemiology / Natural History (11%).

Research Type	Count	% of Total
Patient case studies	60

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 11:11 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:201

GARD

Genetic and Rare Diseases Info Center

GARD:6202

Questions for Your Care Team

→Are any of the 3 active clinical trials a good fit for my situation?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

FAQ

Frequently Asked Questions

Common questions about Cowden disease

Cowden disease is a genetic condition marked by the growth of multiple benign tumors known as hamartomas in various tissues of the body. These tumors can appear on the skin and other organs. The condition is associated with an increased risk for cancers including those of the breast, thyroid, endometrium, kidney, and colorectum. When Cowden syndrome is accompanied by germline PTEN mutations, it is classified as part of the PTEN hamartoma tumor syndrome group. This connection highlights the genetic nature of the condition, and helps doctors understand the potential risks for malignancy in affected individuals.

Information about symptoms is currently limited for this condition.

Cowden disease is primarily caused by genetic alterations. When the condition occurs with germline PTEN mutations, it is classified under the PTEN hamartoma tumor syndrome group, emphasizing its genetic origins. Further detailed information about causes is not provided in the available sources. Associated genes include PIK3CA, SEC23B, KLLN, PTEN, AKT1.

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GeneReviews

Differential Diagnosis

Table 3. Disorders to Consider in the Differential Diagnosis of PTEN Hamartoma Tumor Syndrome

Gene(s)	Disorder	Clinical Characteristics	Comment
AKT1	AKT1-related Proteus syndrome1,2	Progressive segmental or patchy overgrowth most commonly affecting skeleton, skin, adipose tissue, CNS; development of a range of tumors, pulmonary complications, a striking predisposition to DVT pulmonary embolism	PHTS is assoc w/growth abnormalities w/linear nevi vascular malformations that are clinically molecularly distinct from those of AKT1-related Proteus syndrome. BMPR1A SMAD4
Juvenile polyposis syndrome (JPS)	Predisposition to hamartomatous polyps in GI tract (specifically stomach, small intestine, colon, rectum). Untreated polyps may cause bleeding anemia. Most juvenile polyps are benign, but malignant transformation can occur.	Unlike PHTS, polyps usually present by age 20 can reach up to 100 during a lifetime. JPS polyps are juvenile polyps by histology. PHTS polyps carry diverse histology incl epithelial overgrowth, hamartomatous, neuromatous, juvenile, adenomatous.	—
FLCN	Birt-Hogg-Dub syndrome1	Cutaneous manifestations (fibrofolliculomas, acrochordons, angiofibromas, oral papules, cutaneous collagenomas, epidermal cysts), pulmonary cysts / history of pneumothorax, various types of renal tumors	Cutaneous lesions can be mistaken for trichilemmomas characteristic of PHTS. Unlike the predominant papillary renal cancers in PHTS, BHD renal cancers have a mixed chromophobe/oncocytic histology.
NF1	Neurofibromatosis type 1 (NF1)1	The only features seen in both NF1 CS/BRRS are caf au lait macules fibromatous tumors of the skin.	NF1 may be mistakenly diagnosed in persons w/CS/BRRS due to presence of ganglioneuromas in GI tract. PTCH1
SUFU	Nevoid basal cell carcinoma syndrome (NBCCS)1	Multiple jaw keratocysts /or basal cell carcinomas; skeletal anomalies; ectopic calcification; in ~60% of persons, a recognizable appearance w/macrocephaly, frontal bossing, coarse facial features, facial milia	Dermatologic findings developmental features in CS NBCCS are quite different. STK11
Peutz-Jeghers syndrome	GI polyposis, mucocutaneous pigmentation, cancer predisposition	The P-J polyp has a diagnostic appearance is quite different from CS or JPS hamartomatous polyps. P-J polyps are often symptomatic (intussusception, rectal bleeding); CS polyps are rarely so.	—

Source: GeneReviews — "PTEN Hamartoma Tumor Syndrome"

Kisho

Cowden disease

Overview

Clinical Presentation

Diagnosis

Diagnostic Criteria

Suggestive Findings

Cowden Syndrome (CS)

Treatment

Management Guidelines

Evaluations and Surveillance Guidelines Following Initial Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

FAQ

Frequently Asked Questions

Clinical Guidance

Explore clinical features

Differential Diagnosis

General

Breast (female)

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Recent Publications

Cowden disease

Overview

Clinical Presentation

Diagnosis

Diagnostic Criteria

Suggestive Findings

Cowden Syndrome (CS)

Treatment

Management Guidelines

Evaluations and Surveillance Guidelines Following Initial Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Subtypes

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

FAQ

Frequently Asked Questions

What is Cowden disease?

What are the symptoms of Cowden disease?

What causes Cowden disease?

How rare is Cowden disease?

How is Cowden disease diagnosed?

Are there treatments for Cowden disease?

What are the potential complications of Cowden disease?

How does Cowden disease affect daily life?

What is the prognosis for someone with Cowden disease?

What should families consider regarding family planning with Cowden disease?

Clinical Guidance

Explore clinical features

Differential Diagnosis

General

Breast (female)

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Recent Publications