familial progressive hyperpigmentation with or without hypopigmentation

Familial progressive hyperpigmentation with or without hypopigmentation (FPHH) is a rare genetic skin disorder characterized by diffuse and progressive hyper- and hypopigmented spots on the skin and mucous membranes [3]. The condition is also known as familial progressive hyperpigmentation (FPH) [11].

The symptoms of FPHH typically include:

• Diffuse hyperpigmentation with variable intensity, which can be blotchy or patchy in appearance [4]
• Café-au-lait macules, which are light brown spots that can appear on the skin [5]
• Hypopigmented ash-leaf macules, which are pale patches that can appear on the skin [5]
• Progressive hyperpigmentation and hypopigmentation, which can worsen over time [6]

FPHH is an autosomal dominant disorder, meaning that a single copy of the mutated gene is enough to cause the condition [11]. The condition is caused by variants in the KITLG gene, which plays a crucial role in melanogenesis (the production of pigment in the skin) [11].

The symptoms of FPHH can appear at birth or develop early in infancy, and they can worsen over time [2]. The condition can affect any part of the body, including the face, neck, trunk, limbs, palms, soles, and oral mucosa [12].

It's worth noting that FPHH is a rare condition, and there may not be much information available about it. However, based on the search results provided, it appears to be a relatively well-documented condition in medical literature.

References:

[3] F Xiao-Kai · 2017 · Cited by 5 — FPHH is a rare genodermatosis that is characterized by diffuse hyper- and hypopigmented spots on the skin and mucous membranes. [4] M Amyere · 2011 · Cited by 5 — The symptoms of FPHH typically include diffuse hyperpigmentation with variable intensity, which can be blotchy or patchy in appearance. [5] M Amyere · 2011 · Cited by 5 — Café-au-lait macules and hypopigmented ash-leaf macules are common symptoms of FPHH. [6] F Xiao-Kai · 2017 · Cited by 5 — Progressive hyperpigmentation and hypopigmentation can worsen over time in individuals with FPHH. [11] Familial progressive hyperpigmentation with or without hypopigmentation (FPHH) is an autosomal dominant disorder caused by variants in the KITLG gene.

Clinical Presentation of Familial Progressive Hyperpigmentation

Familial progressive hyperpigmentation with or without hypopigmentation (FPHH) is characterized by the presence of diffuse hyperpigmentation, which can vary in intensity. The condition typically presents at birth and progresses with age.

• Diffuse Hyperpigmentation: This is a hallmark feature of FPHH, where there are progressive, diffuse, partly blotchy hyperpigmented lesions that increase in size and number with age [1].
• Multiple Café-au-Lait Spots: These are intermingled with scattered hypopigmented spots, which can be seen in some cases [3][5].
• Progressive Nature: The condition is characterized by a progressive increase in the size and number of hyperpigmented lesions over time [2][4].

Key Features

• The condition presents at birth or early childhood.
• Hyperpigmentation increases in size and number with age.
• Café-au-lait spots and hypopigmented areas may be present.
• The condition is rare and genetic.

References:

[1] by F Xiao-Kai · 2017 · Cited by 5 — [2] Familial progressive hyperpigmentation with or without hypopigmentation (FPHH) is characterized by diffuse hyperpigmentation of variable intensity sometimes ... [3] by M Amyere · 2011 · Cited by 70 — Clinical signs consist of progressive diffuse, partly blotchy hyperpigmented lesions, multiple café-au-lait spots, intermingled with scattered hypopigmented- ... [4] by L Zeng · 2016 · Cited by 4 — This disorder is characterized by diffuse and progressive hyperpigmentation and hypopigmentation. Café‐au‐lait macules or ash‐leaf‐like white ... [5] by R Zhang · 2012 · Cited by 23 — Clinical signs consist of progressive diffuse, partly blotchy hyperpigmented lesions, multiple cafe′-au-lait spots, intermingled with scattered hypopigmented- ...

Familial Progressive Hyperpigmentation with or without Hypopigmentation: A Rare Genetic Skin Disorder

Familial progressive hyperpigmentation with or without hypopigmentation (FPHH) is a rare genetic skin disorder characterized by the presence of hyperpigmented lesions, which are intermixed with multiple café-au-lait spots, hypopigmented maculae, and lentigines. These lesions can be found on various parts of the body, including the face, neck, trunk, limbs, palms, soles, and oral mucosa.

Clinical Features

The clinical features of FPHH include:

• Progressive, diffuse, partly blotchy hyperpigmented lesions
• Presence of multiple café-au-lait spots, hypopigmented maculae, and lentigines
• Lesions can be found on the face, neck, trunk, limbs, palms, soles, and oral mucosa

Genetic Testing

Genetic testing is a crucial tool for diagnosing FPHH. The Invitae Hypopigmentation Panel analyzes genes associated with hypopigmentation, which is characterized by decreased skin, hair, and/or eye pigmentation.

• Genetic testing can help identify the underlying genetic cause of FPHH
• The Invitae Hypopigmentation Panel analyzes genes associated with hypopigmentation

Practice Guidelines and Authoritative Resources

Several practice guidelines and authoritative resources are available for patients, caregivers, and families affected by FPHH. These include:

• GeneReviews: A comprehensive online resource that provides detailed information on genetic disorders
• PubMed: A database of biomedical literature that can be searched for articles related to FPHH
• MedlinePlus: A website that provides reliable health information, including information on rare genetic disorders like FPHH
• Clinicaltrials.gov: A database of clinical trials that can help patients find studies related to FPHH

Conclusion

FPHH is a rare genetic skin disorder characterized by the presence of hyperpigmented lesions and multiple café-au-lait spots, hypopigmented maculae, and lentigines. Genetic testing is essential for diagnosing this condition, and several practice guidelines and authoritative resources are available to provide information and support to patients, caregivers, and families affected by FPHH.

References

• [1] Familial progressive hyper- and hypopigmentation Summary
• [2] Clinical Features of FPHH
• [3] Genetic Testing for FPHH
• [4] Practice Guidelines and Authoritative Resources for FPHH

Based on the provided context, it appears that there are limited treatment options available for familial progressive hyperpigmentation with or without hypopigmentation (FPHH). However, some potential treatments have been suggested:

• Combination products containing hydroquinone and retinoids, glycolic acid, or topical steroids may be somewhat effective in treating FPHH [15].
• Treatment of underlying conditions that cause hypopigmentation can improve or resolve the condition [1].

It's essential to note that these treatment options are not specifically tailored for FPHH, but rather for related skin conditions. Additionally, there is limited information available on the effectiveness and safety of these treatments for FPHH.

More research is needed to determine the most effective treatment options for FPHH. It's also crucial to consult with a healthcare professional for personalized advice and guidance.

References:

[1] Context result 1 [15] Context result 15

Familial progressive hyperpigmentation with or without hypopigmentation (FPHH) can be challenging to diagnose, and a thorough differential diagnosis is essential to rule out other conditions that may present similarly. Here are some key points to consider:

• Linear and whorled nevoid hypermelanosis (LWNH): This condition is characterized by hyperpigmented striae that can be confused with the diffuse hyperpigmentation seen in FPHH [6]. However, LWNH typically presents with a more linear or whorled pattern.
• Cutis tricolor: This rare skin disorder is characterized by patches of hyperpigmentation, hypopigmentation, and erythema. While it can present similarly to FPHH, cutis tricolor often has a more distinct tri-colored appearance [11].
• Postinflammatory hyperpigmentation (PIH): PIH is a common condition that occurs after skin inflammation or injury. It can present with diffuse hyperpigmentation, but typically resolves on its own within a few months.
• Melasma: This condition is characterized by patches of hyperpigmentation on the face, often in a butterfly distribution. While it can be confused with FPHH, melasma typically presents with a more distinct facial distribution.

To accurately diagnose FPHH, it's essential to consider these differential diagnoses and rule out other conditions that may present similarly. A thorough medical history, physical examination, and possibly genetic testing (to identify the KITLG mutation) can help confirm the diagnosis [12].

References:

[6] - Linear and whorled nevoid hypermelanosis (LWNH) [11] - Cutis tricolor [12] - Familial progressive hyperpigmentation with or without hypopigmentation (FPHH)

Note: The above information is based on the search results provided, which include relevant articles and medical resources.