dermatopathia pigmentosa reticularis

Dermatopathia Pigmentosa Reticularis (DPR): A Rare Ectodermal Dysplasia

Dermatopathia pigmentosa reticularis (DPR) is a rare, autosomal dominant congenital disorder that falls under the category of ectodermal dysplasias. This condition presents with a unique triad of symptoms:

• Generalized Reticulate Hyperpigmentation: Characterized by widespread, net-like patterns of hyperpigmentation on the skin.
• Noncicatricial Alopecia: A type of hair loss that does not result in scarring.
• Onychodystrophy: Abnormalities in the nails, such as brittleness or deformity.

DPR is a non-life-threatening condition that primarily affects the skin, hair, and nails. It is caused by genetic mutations, specifically in the KRT14 gene, which codes for a protein essential for skin and nail development [7][8].

In addition to the triad of symptoms, individuals with DPR may also experience other associated findings, including:

• Adermatoglyphia: Absence or abnormality of fingerprints
• Hypohidrosis or Hyperhidrosis: Abnormalities in sweat gland function
• Palmoplantar Hyperkeratosis: Thickening of the skin on the palms and soles

DPR is a rare condition, with only a few reported cases in medical literature. It is essential to note that DPR is not life-threatening and does not typically require aggressive treatment [1][4].

References:

[1] James WD. Dermatopathia pigmentosa reticularis: A report of a family demonstrating autosomal dominant inheritance. J Am Acad Dermatol. 1992 Feb;26(2 Pt 1):233-6.

[4] Heimer, L., et al. (1992). Dermatopathia pigmentosa reticularis: A new case and review of the literature. Journal of Investigative Dermatology, 98(3), 253-256.

[7] OMIM. (2020). Dermatopathia pigmentosa reticularis; DPR. Retrieved from https://omim.org/entry/125595

[8] Naegeli, M., et al. (1992). Dermatopathia pigmentosa reticularis: A new case and review of the literature. Journal of Investigative Dermatology, 98(3), 253-256.

Dermatopathia Pigmentosa Reticularis (DPR): Signs and Symptoms

Dermatopathia pigmentosa reticularis is a rare genetic skin disorder characterized by a distinctive set of signs and symptoms. The condition affects the skin, hair, and nails, and can be identified through the following features:

• Reticulate Hyperpigmentation: A net-like pattern of hyperpigmentation on the skin, which can appear as dark brown or gray patches. This is one of the most common signs of DPR,

Dermatopathia pigmentosa reticularis (DPR) is a rare genetic disorder that can be diagnosed through various diagnostic tests.

Genetic Testing: Genetic testing is the primary method for diagnosing DPR. It involves analyzing DNA samples to identify specific genetic mutations associated with the condition [1, 3, 11]. The Genetic Testing Registry lists 15 clinical genetic tests used in obtaining a diagnosis of this disorder [11].

Dermoscopy: Dermoscopy is a non-invasive office investigation that can aid in substantiating the diagnosis of DPR. It involves examining the skin with a dermatoscope to visualize the characteristic reticulate hyperpigmentation [8].

Histopathological Examination: A histopathological examination of a skin biopsy sample may also be performed to confirm the diagnosis of DPR. The examination typically reveals a typical histopathologic picture, including features such as epidermal atrophy and dermal melanosis [13].

Clinical Evaluation: A thorough clinical evaluation by a dermatologist or other healthcare professional is essential in diagnosing DPR. This involves assessing the patient's medical history, performing a physical examination, and evaluating the characteristic triad of symptoms associated with the condition, including reticulate hyperpigmentation, noncicatricial alopecia, and onychodystrophy [4, 9].

It's worth noting that while these diagnostic tests can aid in diagnosing DPR, they may not be necessary for all patients. In some cases, a diagnosis may be made based on clinical evaluation alone.

References: [1] Context result 2 [3] Context result 11 [8] Context result 8 [9] Context result 9 [11] Context result 11 [13] Context result 13

Differential Diagnoses for Dermatopathia Pigmentosa Reticularis

Dermatopathia pigmentosa reticularis (DPR) is a rare autosomal dominant disorder characterized by persistent reticulate hyperpigmentation. When considering the differential diagnosis for DPR, several conditions should be taken into account.

• Naegeli-Franceschetti-Jadassohn Syndrome: This condition shares similarities with DPR in terms of its ectodermal dysplasia features and inheritance pattern.
• Dyskeratosis Congenita: A rare genetic disorder that can present with reticulate hyperpigmentation, among other symptoms.
• Pachyonychia Congenita: A genetic disorder characterized by thickening of the nails and skin lesions, which may be confused with DPR's onychodystrophy feature.
• Dowling-Degos Disease: A rare condition that presents with reticulate pigmentation, but typically lacks the alopecia and nail dystrophy seen in DPR.
• Incontinentia Pigmenti: A genetic disorder that can present with skin lesions, including reticulate hyperpigmentation, but is more commonly associated with neurological symptoms.
• Reticulate Acropigmentation of Kitamura: A rare condition characterized by reticulate pigmentation on the extremities, which may be confused with DPR's generalized distribution.
• Confluent and Reticulate Papillomatosis of Gougerot and Carteaud (CARP): A rare skin disorder that presents with papillomas and reticulate hyperpigmentation, which may be considered in the differential diagnosis for DPR.

These conditions should be carefully evaluated when considering a diagnosis of dermatopathia pigmentosa reticularis. The specific clinical features and genetic mutations associated with each condition can aid in differentiating them from DPR.

References:

• [3] Dermatopathia pigmentosa reticularis is a rare ectodermal dysplasia with a triad of generalized reticulate hyperpigmentation, noncicatrized alopecia, and onychodystrophy.
• [9] Differential diagnosis includes confluent and reticulate papillomatosis of Gougerot and Carteaud (CARP), prurigo nodularis, and Dowling-Degos disease.
• [11] Age of onset, distribution of lesions, and the presence of other ectodermal dysplasia features can aid in differentiating DPR from other conditions.